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Terms of Service

1. Definitions

  • "23andMe" means 23andMe, Inc., whose principal place of business is at 899 West Evelyn Ave., Mountain View, CA 94041.
  • "23andMe Research" means scientific research that 23andMe performs with the intent to publish in a peer-reviewed scientific journal. 23andMe Research only uses Genetic and Self-Reported Information from users who have given informed consent according to the applicable Consent Document. 23andMe Research activities do not include R&D.
  • "Product Development" means research performed for the purpose of new product development and new product development activities performed by 23andMe on de-identified user data. These activities may include, among other things, improving our Services and/or offering new products or services to you; performing quality control activities; conducting data analysis that may lead to and/or include commercialization with a third party.
  • "Service" or "Services" means 23andMe's products, software, services, and website (including but not limited to text, graphics, images, and other material and information) as accessed from time to time by the user, regardless if the use is in connection with an account or not.
  • "Personal Information" is information that can be used to identify you, either alone or in combination with other information. 23andMe collects and stores the following types of Personal Information:
    • "Registration Information" is the information you provide about yourself when registering for and/or purchasing our Services (e.g. name, email, address, user ID and password, and payment information).
    • "Genetic Information" is information regarding your genotype (e.g. the As, Ts, Cs, and Gs at particular locations in your genome), generated through processing of your saliva by 23andMe or by its contractors, successors, and assignees; or otherwise processed by and/or contributed to 23andMe.
    • "Self-Reported Information" is all information about yourself, including your disease conditions, other health-related information, personal traits, ethnicity, family history, and other information that you enter into surveys, forms, or features while signed in to your 23andMe account. Self-Reported Information is included in 23andMe Research only if it has been indicated for 23andMe Research use on the website and if you have given consent according to the applicable Consent Document.
    • "User Content" is all information, data, text, software, music, audio, photographs, graphics, video, messages, or other materials - other than Genetic Information and Self-Reported Information-generated by users of 23andMe Services and transmitted, whether publicly or privately, to or through 23andMe.
    • "Web Behavior Information" is information on how you use the 23andMe website (e.g. browser type, domains, page views) collected through log files, cookies, and web beacon technology.
  • "Aggregated Genetic and Self-Reported Information" is Genetic and Self-Reported Information that has been combined with that of other users and analyzed or evaluated as a whole, such that no specific individual may be reasonably identified.

2. Acceptance of Terms

Your use of 23andMe's Services (excluding any services provided by 23andMe under a separate agreement) is subject to the terms of the legal agreement between you and 23andMe set forth in these Terms of Service ("TOS"). Except as specified herein, these TOS apply to any use of the Services, including but not limited to a) submitting a saliva sample for DNA extraction and processing, b) uploading a digital version of your Genetic Information and interacting with it on the 23andMe website, and/or c) creating and using a free 23andMe account without providing your saliva sample or Genetic Information. In order to use the Services, you must first agree to the TOS. You may not use the Services if you do not accept the TOS. You can accept the TOS by (1) clicking to accept or agree to the TOS, where this option is made available to you by 23andMe for any Service; or by (2) actually using the Services. In this case, you acknowledge and agree that 23andMe will treat your use of the Services as acceptance of the TOS from that point onwards. In addition, when using particular 23andMe Services, you shall be subject to any guidelines or rules applicable to such services that may be posted from time to time. All such guidelines or rules are hereby incorporated by reference into the TOS. 23andMe also may offer other services from time to time that are governed by different terms of service.

3. Prerequisites

  1. Whether you submit your own saliva sample, a saliva sample for anyone for whom you have legal authority to agree, or otherwise provide your own Genetic Information, you may not use the Services and may not accept the TOS if (1) you are not of legal age to form a binding contract with 23andMe, or (2) you are a person barred from receiving the Services under the laws of the jurisdiction in which you are resident or from which you use the Services.
  2. In addition to the conditions above, if you contribute or otherwise provide your own Genetic Information, you must be eighteen (18) years of age or older to agree to these TOS on behalf of yourself or those for whom you have legal authority to agree.
  3. If your use of the Services includes creating a 23andMe account, without submitting a saliva sample or otherwise providing Genetic Information, you must be thirteen (13) years of age or older to use the Services and accept the TOS.

4. Description of the Services

The Services include access to the 23andMe public website and personal genotyping services, including the collection and analysis of your saliva sample. Unless explicitly stated otherwise, each new feature that augments or enhances the current Service shall be subject to the TOS. You acknowledge and agree that the Services are provided "AS-IS" and are based on the current state of the art of genetic research and technology in use by 23andMe at the time of the purchase or viewing. As research progresses and scientific knowledge and technology evolve, 23andMe is constantly innovating in order to provide the best possible experience for its users. You acknowledge and agree that the form and nature of the Services which 23andMe provides may change from time to time without prior notice to you. As part of this continuing innovation, you acknowledge and agree that 23andMe may stop (permanently or temporarily) providing some Services (or any features within the Services) to you or to users generally at 23andMe's sole discretion, without prior notice to you. You may stop using the Services at any time. You do not need to specifically inform 23andMe when you stop using the Services unless you are requesting closure of your account. 23andMe assumes no responsibility for the use of Services outside the terms of this TOS or other applicable terms.

In order to use the Services, you must obtain Internet access, either directly or through devices that access web-based content, and pay any service fees associated with such access. You are solely responsible for paying such fees. In addition, you must provide all equipment necessary to make such Internet connection, including a computer and modem or other access device. You are solely responsible for providing such equipment. You acknowledge and agree that while 23andMe may not currently have set a fixed upper limit on the number of transmissions you may send or receive through the Services or on the amount of storage space used for the provision of any Service, such fixed upper limits may be set by 23andMe at any time, at 23andMe's discretion.

5. Risks and Considerations Regarding 23andMe Services

Once you obtain your Genetic Information, the knowledge is irrevocable. You should not assume that any information we may be able to provide to you, whether now or as genetic research advances, will be welcome or positive. You should also understand that as research advances, in order for you to assess the meaning of your DNA in the context of such advances, you may need to obtain further services from 23andMe, your physician, a genetic counselor, or other health care provider.

We encourage you to talk to a genetic counselor, a health professional with special training in genetic conditions, prior to collecting your sample for testing to learn more so you can make an informed decision about whether testing is right for you. A genetic counselor also can help you understand your results and options.

Some people feel a little anxious about getting genetic health results. This is normal. If you feel very anxious, you should speak to your physician or a genetic counselor prior to collecting your sample for testing.

You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life and worldview. You may discover things about yourself that trouble you and that you may not have the ability to control or change (e.g., your father is not genetically your father, surprising facts related to your ancestry, or that someone with your genotype may have a higher than average chance of developing a specific condition or disease). These outcomes could have social, legal, or economic implications.

The laboratory may not be able to process your sample, and the laboratory process may result in errors. The laboratory may not be able to process your sample up to 3.0% of the time if your saliva does not contain a sufficient volume of DNA, you do not provide enough saliva, or the results from processing do not meet our standards for accuracy.* If the initial processing fails for any of these reasons, 23andMe will reprocess the same sample at no charge to the user. If the second attempt to process the same sample fails, 23andMe will offer to send another kit to the user to collect a second sample at no charge. If the user sends another sample and 23andMe's attempts to process the second sample are unsuccessful, (up to 0.35% of all samples fail the second attempt at testing according to 23andMe data obtained in 2014 for all genotype testing),* 23andMe will not send additional sample collection kits and the user will be entitled solely and exclusively to a complete refund of the amount paid to 23andMe, less shipping and handling, provided the user shall not resubmit another sample through a future purchase of the service. If the user breaches this policy agreement and resubmits another sample through a future purchase of the service and processing is not successful, 23andMe will not offer to reprocess the sample or provide the user a refund. Even for processing that meets our high standards, a small, unknown fraction of the data generated during the laboratory process may be un-interpretable or incorrect (referred to as "Errors"). As this possibility is known in advance, users are not entitled to refunds where these Errors occur.

You should not change your health behaviors solely on the basis of information from 23andMe. Make sure to discuss your Genetic Information with a physician or other health care provider before you act upon the Genetic Information resulting from 23andMe Services. For most common diseases, the genes we know about are only responsible for a small fraction of the risk. There may be unknown genes, environmental factors, or lifestyle choices that are far more important predictors. If your data indicate that you are not at elevated genetic risk for a particular disease or condition, you should not feel that you are protected. The opposite is also true; if your data indicate you are at an elevated genetic risk for a particular disease or condition, it does not mean you will definitively develop the disease or condition. In either case, if you have concerns or questions about what you learn through 23andMe, you should contact your physician or other health care provider. Please note that genetic risk assessment is not applicable to results of carrier screening tests.

Genetic research is not comprehensive. While we measure many hundreds of thousands of data points from your DNA, only a small percentage of them are known to be related to human traits or health conditions. The research community is rapidly learning more about genetics, and an important mission of 23andMe is to conduct and contribute to this research. In addition, many ethnic groups are not included in genetic studies. Because interpretations provided in our service rely on these published studies, some interpretations may not apply to you. Future scientific research may change the interpretation of your DNA. In the future, the scientific community may show previous research to be incomplete or inaccurate.

Genetic Information you share with others could be used against your interests. You should be careful about sharing your Genetic Information with others. Currently, very few businesses or insurance companies request genetic information, but this could change in the future. While the Genetic Information Nondiscrimination Act was signed into law in the United States in 2008, its protection against discrimination by employers and health insurance companies for employment and coverage issues has not been clearly established. In addition, GINA does not cover life, long-term care, or disability insurance providers. Some, but not all, states and other jurisdictions have laws that protect individuals with regard to their Genetic Information. You may want to consult a lawyer to understand the extent of legal protection of your Genetic Information before you share it with anybody.

Furthermore, Genetic Information that you choose to share with your physician or other health care provider may become part of your medical record and through that route be accessible to other health care providers and/or insurance companies in the future. Genetic Information that you share with family, friends or employers may be used against your interests. Even if you share Genetic Information that has no or limited meaning today, that information could have greater meaning in the future as new discoveries are made. If you are asked by an insurance company whether you have learned Genetic Information about health conditions and you do not disclose this to them, this may be considered to be fraud.

23andMe Services are for research, informational, and educational use only. We do not provide medical advice. The Genetic Information provided by 23andMe is for research, informational, and educational use only. This means two things. First, many of the genetic discoveries that we report have not been clinically validated, and the technology we use, which is the same technology used by the research community, to date has not been widely used for clinical testing. Second, in order to expand and accelerate the understanding and practical application of genetic knowledge in health care, we invite all genotyped users to participate in 23andMe Research. Participation in such research is voluntary and based upon an IRB-approved consent document. As a result of the current state of genetic knowledge and understanding, our Services are for research, informational, and educational purposes only. The Services are not intended to be used by the customer for any diagnostic purpose and are not a substitute for professional medical advice. You should always seek the advice of your physician or other health care provider with any questions you may have regarding diagnosis, cure, treatment, mitigation, or prevention of any disease or other medical condition or impairment or the status of your health.

23andMe does not endorse, warranty or guarantee the effectiveness of any specific course of action, resources, tests, physician or other health care providers, drugs, biologics, medical devices or other products, procedures, opinions, or other information that may be mentioned on our website. If we provide to you on our website any recommendations that identify for you, based on your Genetic and Self-Reported Information and scientific literature or research, potentially actionable information, this information is intended for informational purposes only and for discussion with your physician or other healthcare provider. As explained on our website, 23andMe believes that (a) genetics is only part of the picture of any individual's state of being, (b) the state of the understanding of Genetic Information is rapidly evolving and at any given time we only comprehend part of the picture of the role of genetics, and (c) only a trained physician or other health care provider can assess your current state of health or disease, taking into account many factors, including in some cases your genetics as well as your current symptoms, if any. Reliance on any information provided by 23andMe, 23andMe employees, others appearing on our website at the invitation of 23andMe, or other visitors to our website is solely at your own risk.

While we are licensed in California as a clinical laboratory, not all jurisdictions require our Services to be subject to license. Therefore, we are not universally licensed by all state, federal, or international authorities for genetic testing conducted for health and disease-related purposes. In addition, there are certain jurisdictions in which we do not offer our Services because we do not have required licenses.

6. User Representations

By accessing 23andMe Services, you agree to, acknowledge, and represent as follows:

  1. You understand that information you learn from 23andMe is not designed to independently diagnose, prevent, or treat any condition or disease or to ascertain the state of your health in the absence of medical and clinical information. You understand that the 23andMe services are intended for research, informational, and educational purposes only, and that while 23andMe information might point to a diagnosis or to a possible treatment, it should always be confirmed and supplemented by additional medical and clinical testing and information. You acknowledge that 23andMe urges you to seek the advice of your physician or other health care provider if you have questions or concerns arising from your Genetic Information.
  2. You give permission to 23andMe, its contractors, successors and assignees to perform genotyping services on the DNA extracted from your saliva sample and you specifically request 23andMe to disclose the results of analyses performed on your DNA to you and to others you specifically authorize.
  3. You represent that you are eighteen (18) years of age or older if you are providing a saliva sample or accessing your Genetic Information.
  4. You are guaranteeing that any sample you provide is your saliva; if you are agreeing to these TOS on behalf of a person for whom you have legal authorization, you are confirming that the sample provided will be the sample of that person.
  5. If you are a customer outside the U.S. providing a saliva sample, you confirm that this act is not subject to any export ban or restriction in the country in which you reside.
  6. You agree that any saliva sample you provide and all resulting data may be transferred and/or processed outside the country in which you reside.
  7. You are warranting that you are not an insurance company or an employer attempting to obtain information about an insured person or an employee.
  8. You are aware that some of the information you receive may provoke strong emotion.
  9. You take responsibility for all possible consequences resulting from your sharing with others access to your Genetic Information and your Self-Reported Information.
  10. You understand that all your Personal Information will be stored in 23andMe databases and will be processed in accordance with the 23andMe Privacy Statement.
  11. Waiver of Property Rights: You understand that by providing any sample, having your Genetic Information processed, accessing your Genetic Information, or providing Self-Reported Information, you acquire no rights in any research or commercial products that may be developed by 23andMe or its collaborating partners. You specifically understand that you will not receive compensation for any research or commercial products that include or result from your Genetic Information or Self-Reported Information.

You agree that you have the authority, under the laws of the state or jurisdiction in which you reside, to provide these representations. In case of breach of any one of these representations 23andMe has the right to suspend or terminate your account and refuse any and all current or future use of the Services (or any portion thereof) and you will defend and indemnify 23andMe and its affiliates against any liability, costs, or damages arising out of the breach of the representation.

7. Account Creation, Customer Account, Password, and Security Obligations

In consideration of your use of the Services, you agree to: (a) provide true, accurate, current, and complete Registration Information about yourself as prompted by the Service; and (b) maintain and promptly update the Registration Information to keep it true, accurate, current, and complete. If you provide any Registration Information that is untrue, inaccurate, not current, or incomplete, or if 23andMe has a reasonable ground to suspect that such information is untrue, inaccurate, not current, or incomplete, 23andMe has the right to suspend or terminate your account and refuse any and all current or future use of the Service (or any portion thereof). The Services are for use only in the country to which your sample collection kit was shipped from 23andMe.

After you have purchased our Service, you will create a password and account designation. You are responsible for maintaining the confidentiality of the password and account, and are fully responsible for all activities that occur under your password or account. If you allow third parties to access 23andMe's website through your username and password, you will defend and indemnify 23andMe and its affiliates against any liability, costs, or damages, including attorney fees, arising out of claims or suits by such third parties based upon or relating to such access and use. You agree to (a) immediately notify 23andMe of any unauthorized use of your password or account or any other breach of security, and (b) ensure that you exit from your account at the end of each session. 23andMe cannot and will not be liable for any loss or damage arising from your failure to comply with this Section.

8. 23andMe Privacy Statement and Disclosure of Information

In order to use the Services, you must first acknowledge and agree to the Privacy Statement. You may not use the Services if you do not accept the Privacy Statement. You can acknowledge and agree to the Privacy Statement by (1) clicking to accept or agree to the Privacy Statement, where this option is made available to you by 23andMe for any Service; or by (2) actually using the Services.

You acknowledge and agree that 23andMe has the right to monitor any use of its systems by its personnel at any time and maintain copies documenting such monitoring. Our Privacy Statement sets forth the only expectations of privacy any individual should have in terms of usage of the 23andMe Services, website, or other systems. If you have given consent for your Genetic Information and Self-Reported Information to be used in 23andMe Research as described in the applicable Consent Document, we may include your information in the Aggregated Genetic Information and Self-Reported Information we disclose to third parties for the purpose of publication in a peer-reviewed scientific journal. 23andMe may also include your information in Aggregated Genetic and Self-Reported Information disclosed to third-party non-profit and/or commercial research partners who will not publish that information in a peer-reviewed scientific journal. 23andMe Research may be sponsored by, conducted on behalf of, or in collaboration with third parties, such as non-profit foundations, academic institutions or pharmaceutical companies. 23andMe Research may study a specific group or population, identify potential areas or targets for therapeutics development, conduct or support the development of drugs, diagnostics or devices to diagnose, predict or treat medical or other health conditions, work with public, private and/or non-profit entities on genetic research initiatives, or otherwise create, commercialize, and apply this new knowledge to improve health care. 23andMe will never release your individual-level Genetic Information and/or Self-Reported Information to any third party without asking for and receiving your explicit consent to do so, unless required by law.

Further, you acknowledge and agree that 23andMe is free to preserve and disclose any and all Personal Information to law enforcement agencies or others if required to do so by law or in the good faith belief that such preservation or disclosure is reasonably necessary to: (a) comply with legal process (such as a judicial proceeding, court order, or government inquiry) or obligations that 23andMe may owe pursuant to ethical and other professional rules, laws, and regulations; (b) enforce the 23andMe TOS; (c) respond to claims that any content violates the rights of third parties; or (d) protect the rights, property, or personal safety of 23andMe, its employees, its users, its clients, and the public. In such event we will notify you through the contact information you have provided to us in advance, unless doing so would violate the law or a court order. You understand that the technical processing and transmission of the Services, including your Personal Information, may involve (a) transmissions over various networks; and (b) changes to conform and adapt to technical requirements of connecting networks, or devices. Finally, 23andMe may, in its sole discretion, restrict access to the website for any reason.

Please refer to our Privacy Statement to read about data protection related to your information. See our complete Privacy Statement here.

9. Limited License

You acknowledge that all User Content, whether publicly posted or privately transmitted, is the sole responsibility of the person from which such User Content originated. This means that you, and not 23andMe, are entirely responsible for all User Content that you upload, post, email, or otherwise transmit via the Service.

You acknowledge that the Services content presented to you as part of the Services, whether original 23andMe Services content or sponsored content within the Services, is protected by copyright and/or other intellectual property rights that are owned by 23andMe and/or the sponsors who provide that content to 23andMe (or by other persons or companies on their behalf). 23andMe grants you a Limited License to copy and distribute free of charge, for non-commercial purposes only, any of the Services content with the exception of content from "MD's Perspectives" in the "For the Experts" section of the website and any other content marked as not subject to this Limited License on the website, provided you: (i) provide the Services content as it appears on the 23andMe website with no changes including but not limited to presenting selections which might tend to misrepresent the substance of the Services content; (ii) include the following attribution on the first page of any materials you distribute: © 23andMe, Inc. 2007-2017. All rights reserved; distributed pursuant to a Limited License from 23andMe; (iii) agree you have no right to offer anyone else any further right with respect to this Services content. Aside from the Limited License provided in this paragraph, you may not modify, rent, lease, loan, sell, distribute, or create derivative works based on this Services content (either in whole or in part) unless you have been specifically told that you may do so by 23andMe or by the owners of that content, in a separate agreement.

10. Customer Conduct - Unlawful and Prohibited Use

As a condition of your use of the Services, you warrant to 23andMe that you will not use the Services for any purpose that is unlawful or prohibited by these terms, conditions, or notices. You may not use the Services in any manner that could damage, disable, overburden, or impair the Services or interfere with any other party's use and enjoyment of the Services. You may not obtain or attempt to obtain any materials or information through any means not intentionally made available or provided for through the Services. You may not use the Services outside of the country to which your sample collection kit was shipped from 23andMe. Furthermore you agree not to use the Services to: (1) upload, post, email, or otherwise transmit any material that is derogatory, defamatory, obscene, or offensive, such as slurs, epithets, or anything that might reasonably be construed as harassment or disparagement based on race, color, national origin, sex, sexual orientation, age, disability, religious or political beliefs, or other statutorily protected status; (2) impersonate any person or entity, including, but not limited to, anyone affiliated with 23andMe, or falsely state or otherwise misrepresent your affiliation with a person or entity; (3) add your own headers, forge headers, or otherwise manipulate identifiers in order to disguise the origin of any content transmitted through the Service; (4) "stalk" or otherwise harass another; (5) upload, post, email, or otherwise transmit any content that you do not have a right to transmit under any law or under contractual or fiduciary relationships (such as inside information, proprietary and confidential information learned or disclosed as part of employment relationships or under nondisclosure agreements); (6) use any information received through the Services to attempt to identify other customers, to contact other customers (other than through features for contacting other users such as DNA Relatives offered pursuant to the Services), or for any forensic use; (7) download any file posted by another user of the Service that you know, or reasonably should know, cannot legally be distributed in such manner; (8) upload, post, email or otherwise transmit any content that infringes any patent, trademark, trade secret, copyright, or other proprietary rights ("Rights") of 23andMe or any other party; (9) harm minors in any way; (10) advertise or offer to sell or buy any goods or services for any business purpose, unless such area specifically allows such messages; (11) upload, post, email, or otherwise transmit any unsolicited or unauthorized advertising, promotional materials, "junk mail," "spam," "chain letters," "pyramid schemes," or any other form of solicitation, except in those areas that are designated for such purpose and only to the extent such content is authorized by law; (12) upload, post, email, or otherwise transmit any material that contains software viruses or any other computer code, files, or programs designed to interrupt, destroy, or limit the functionality of any computer software or hardware or telecommunications equipment; (13) use manual or automated software, devices, scripts robots, other means or processes to access, "scrape," "crawl" or "spider" any web pages or other services contained in the site, unless explicitly permitted by 23andMe; (14) engage in "framing," "mirroring," or otherwise simulating the appearance or function of 23andMe's website; (15) attempt to or actually override any security component of 23andMe web services; (16) interfere with or disrupt the Service or servers or networks connected to the Service, or disobey any requirements, procedures, policies, or regulations of networks connected to the Service; (17) violate these Terms of Service, any code of conduct or other guidelines which may be applicable for any particular area of the Service or have been communicated to you by anyone affiliated with 23andMe; or (18) intentionally or unintentionally violate any applicable local, state, national, or international law, or any regulations having the force of law.

You acknowledge and agree that you are solely responsible for (and that 23andMe has no responsibility to you or to any third party for) any breach of your obligations under the TOS and for the consequences (including any loss or damage which 23andMe may suffer) of any such breach. In case of breach of any one of these agreements 23andMe has the right to suspend or terminate your account and refuse any and all current or future use of the Services (or any portion thereof) and you will defend and indemnify 23andMe and its affiliates against any liability, costs, or damages arising out of the breach of the representation.

If you violate the terms of this Section and/or 23andMe has a reasonable ground to suspect that you have violated the terms of this Section, 23andMe has the right to suspend or terminate your account and refuse any and all current or future use of the Service (or any portion thereof).

11. Export Control and Applicable Laws and Regulations

Recognizing the global nature of the Internet, you agree to comply with all local rules regarding online conduct and acceptable content. Specifically, you agree 1) that providing your sample is not subject to any export ban or restriction in the country in which you reside, 2) that your sample and data may be transferred and/or processed outside the country in which you reside, and 3) that you will comply with all applicable laws regarding the transmission of technical data exported from the United States or the country from which you access 23andMe's Services online.

12. Material Posted Through The Service

23andMe will not, at all times, control any of the User Content posted via the Service and, as such, does not guarantee the accuracy, integrity, or quality of such non-23andMe content. You understand that by using the Services, you may be exposed to content that is offensive, indecent, or objectionable. Under no circumstances will 23andMe be liable in any way for any non-23andMe content, including, but not limited to, any errors or omissions in any such content, or for any loss or damage of any kind incurred as a result of the use of any such content posted, emailed, or otherwise transmitted via the Services.

You acknowledge that 23andMe and its designees shall have the right (but not the obligation) in their sole discretion to pre-screen, review, filter, modify, refuse, or move any content that is available via the Services. Without limiting the foregoing, 23andMe and its designees shall have the right to remove any content that violates the TOS or is deemed by 23andMe, in its sole discretion, to be otherwise objectionable. You acknowledge and agree that you must evaluate, and bear all risks associated with, the use of any content, including any reliance on the accuracy, completeness, or usefulness of such content.

13. Material Provided to 23andMe - Your Proprietary Rights

User Content. 23andMe does not claim ownership of the User Content you provide to 23andMe (including feedback and suggestions) or post, upload, input, or submit to the Service. Unless otherwise specified, you retain copyright and any other rights you already hold over User Content that you create and submit, post, or display on or through the Services. However, by submitting, posting, or displaying User Content, you give 23andMe, its affiliated companies, sublicensees (including but not limited to sublicensees who avail themselves of the Limited License granted in Section 9 above) and successors and assigns a perpetual, irrevocable, worldwide, royalty-free, and non-exclusive license to reproduce, adapt, modify, translate, publish, publicly perform, publicly display, distribute, reproduce, edit, reformat, and create derivative works from any User Content that you submit, post, or display on or through the Services. You acknowledge and agree that this license includes a right for 23andMe to make such User Content available to other companies, organizations, or individuals with whom 23andMe has relationships, and to use such User Content in connection with the provision of those services.

You understand that 23andMe, in performing the required technical steps to provide the Services to our users, may (a) transmit or distribute your User Content over various public networks and in various media; and (b) make such changes to your content as are necessary to conform and adapt that content to the technical requirements of connecting networks, devices, services, or media. You acknowledge and agree that this license shall permit 23andMe to take these actions. You represent and warrant to 23andMe that you have all the rights, power, and authority necessary to grant the above license.

Genetic and/or Self-Reported Information. Disclosure of individual-level Genetic and/or Self-Reported Information to third parties will not occur without explicit consent, unless required by law. Note that 23andMe cannot control any further distribution of Genetic and/or Self-Reported Information that you share publicly on the 23andMe website. You acknowledge and agree that you are responsible for protecting and enforcing those rights and that 23andMe has no obligation to do so on your behalf.

Your saliva sample, once submitted to and analyzed by us, is processed in an irreversible manner and cannot be returned to you. See our website for more information on sample processing. Any Genetic Information derived from your saliva remains your information, subject to rights we retain as set forth in these TOS. You understand that you should not expect any financial benefit from 23andMe as a result of having your Genetic Information processed; made available to you; or, as provided in our Privacy Statement and Terms of Service, shared with or included in Aggregated Genetic and Self-Reported Information shared with research partners, including commercial partners.

Waiver of Property Rights. As stated above, you understand that by providing any sample, having your Genetic Information processed, accessing your Genetic Information, or providing Self-Reported Information, you acquire no rights in any research or commercial products that may be developed by 23andMe or its collaborating partners. You specifically understand that you will not receive compensation for any research or commercial products that include or result from your Genetic Information or Self-Reported Information.

14. Indemnity

You agree to defend and hold 23andMe, and its subsidiaries, affiliates, officers, agents, contractors, partners, employees, successors, and assigns harmless from any claim, or demand, including reasonable attorneys' fees, made by any third party due to or arising out of User Content you submit, post to, or transmit through the Service; your use of the Service; your connection to the Service; your violation of the TOS; or your violation of any rights of another.

If you have submitted a saliva sample or otherwise provided your own Genetic Information, you will defend and hold harmless 23andMe, its employees, contractors, successors, and assigns from any liability arising out of the use or disclosure of any information obtained from genotyping your saliva sample and/or analyzing your Genetic Information, which is disclosed to you consistent with our Privacy Statement or results from any third-party add-ons to tools we provide. In addition, if you choose to provide your Genetic and/or Self-Reported Information to third parties - whether individuals to whom you facilitate access, intentionally or inadvertently, or to third parties for diagnostic or other purposes - you agree to defend and hold harmless 23andMe, its employees, contractors, successors, and assigns from any and all liability arising from such disclosure or use of your Genetic and/or Self-Reported Information.

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Select report category

Learn more about Genetic Health Risks and Carrier Status reports, genetic counseling and what to know about test results.

For more information about other reports included in our Health + Ancestry Service, including Wellness, Traits and Ancestry,
click here.

Genetic Health Risks

Genetic Health Risk reports tell you about genetic variants associated with increased risk for certain health conditions.

learn more

Carrier Status

Carrier Status tests tell you whether you carry genetic variants that may not affect your health, but could affect the health of your family.

learn more
Genetic Health Risks Carrier Status

23andMe Genetic Health Risk Reports

The following information applies to Genetic Health Risk reports only.

What you should know

23andMe Genetic Health Risk Reports:
What you should know

Genetic Health Risk reports tell you about genetic variants associated with increased risk for certain health conditions. They do not diagnose cancer or any other health conditions or determine medical action.

Having a risk variant does not mean you will definitely develop a health condition. Similarly, you could still develop the condition even if you don't have a variant detected. It is possible to have other genetic risk variants not included in these reports.

Factors like lifestyle and environment can also affect whether a person develops most health conditions. Our reports cannot tell you about your overall risk for these conditions, and they cannot determine if you will or will not develop a condition.

These reports do not replace visits to a healthcare professional. Consult with a healthcare professional for help interpreting and using genetic results. Results should not be used to make medical decisions.

Expand content

We encourage you to speak to a genetic counselor

important

We encourage you to speak to a genetic counselor

There are many things to think about when deciding whether genetic testing is right for you. Although these tests can provide important information about health risks, they can also be upsetting or raise questions about what the results mean. Genetic tests also have certain limitations that are important to understand. Your personal and family medical history, as well as your goals for testing, should all factor into your decisions about whether and how to test.

A genetic counselor, a healthcare professional with special training in genetic conditions, will be able to answer your questions and help you make an informed choice. We recommend that you speak with a genetic counselor before testing, and also after testing to help you understand your results and what actions you should take. This is especially important for health conditions that are preventable or treatable.

Genetic counselors can help you navigate common questions, such as:

  • What are the risks and benefits of genetic testing?
  • Are there diseases that run in the family?
  • How do you handle potentially distressing information?
  • What are you hoping to find out from genetic testing?

Talk to your healthcare provider or click here to search for a genetic counselor near you (this link takes you to a page managed by the National Society of Genetic Counselors: http://www.aboutgeneticcounselors.com/).

Expand content

What to know about Genetic Health Risk reports

What to know about Genetic Health Risk reports

Possible test results

Variant(s) not detected
You do not have the variant(s) we tested. Since these tests do not include all variants that may impact your risk of developing a condition, you may still have another variant that could affect your risk. Non-genetic factors may also affect your risk.

Variant(s) detected
You have one or more of the variants we tested. You may be at increased risk for the condition based on this result. This does not mean you will definitely develop the condition. Other factors may also affect your risk.

Result not determined
Your test result could not be determined. This can be caused by random test error or other factors that interfere with the test.


In some cases, the laboratory may not be able to process your sample. If this happens, we will notify you by email and you may request one free replacement kit.

Other companies offering genetic risk tests may include different variants for the same health condition. This means that it's possible to get different results using a test from a different company.



What to do with the results

If your report says you have variants associated with increased risk

  • Consider sharing the result with a healthcare professional.
  • Certain results, such as having a variant detected for the BRCA1/ BRCA2 (Selected Variants) report, may warrant prompt follow-up with a healthcare professional, since effective options may exist to prevent or reduce risk for disease. Each report will provide more specific guidance.
  • Consider sharing your results with relatives. They may also have these variants. Keep in mind that some people may not want to know information about genetic health risks.

If your report says you do not have any risk variants detected

  • Continue to follow screening and other healthy behaviors recommended by your healthcare provider. This is because our reports do not cover all factors that might influence risk.

Concerned about your risk?

  • If you have other risk factors for the condition, you should discuss the condition with a doctor.
  • You can also discuss your results with a genetic counselor (this link takes you to a page managed by the National Society of Genetic Counselors to find a genetic counselor near you: http://www.aboutgeneticcounselors.com/).

Genetic Health Risk reports are intended to provide you with genetic information to inform conversations with a healthcare professional. These reports should not be used to make medical decisions. Always consult with a healthcare professional before taking any medical action.

Expand content

You will be asked whether you want to receive certain Genetic Health Risk reports

You will be asked whether you want to receive certain Genetic Health Risk reports

Some of our reports are about serious diseases that may not have an effective treatment or cure. Others may have effective treatment or prevention options, but these actions may carry their own health risks. You may be upset by learning about genetic risks for these diseases, and about genetic risks for family members who share DNA. If you tend to feel anxious or have a personal history of depression or anxiety, this information may be more likely to be upsetting. Knowing about genetic risks could also affect your ability to get some kinds of insurance.

You can choose to exclude the following reports individually from your account before your results are returned to you:

  • BRCA1/BRCA2 (Selected Variants)
  • Late-Onset Alzheimer’s Disease
  • Parkinson’s Disease

If you are interested in receiving these reports, we recommend that you consult with a genetic counselor before purchasing. Additional relevant information about these reports will be provided when you go through the process of setting your report preferences, after registering your kit.

Expand content

What to know about our Genetic Health Risk reports

What to know about our Genetic Health Risk reports

Select a Condition

  • View sample report here
  • View package insert here

What to know about:
BRCA1/BRCA2 (Selected Variants) and our test

Specific genetic variants in the BRCA1 and BRCA2 genes are associated with an increased risk of developing certain cancers, including breast cancer (in women and men) and ovarian cancer. These variants may also be associated with an increased risk for prostate cancer and certain other cancers. This test includes three genetic variants in the BRCA1 and BRCA2 genes that are most common in people of Ashkenazi Jewish descent.

BRCA1- and BRCA2-associated cancer risks

  • Women with a variant have a 45-85% chance of developing breast cancer by age 70 and up to a 46% chance of developing ovarian cancer by age 70.
  • Men with a variant have up to an 8% lifetime risk of developing male breast cancer and may have an increased risk for prostate cancer.
  • Men and women with a variant may also have an increased risk for pancreatic cancer and melanoma.
  • Learn more about these cancer risks

Other factors that affect cancer risk

  • Age
  • Family history
  • Obesity
  • Lifestyle factors

When cancers develop
In general, the chances of developing cancer increase as a person gets older. However, women with a BRCA1 or BRCA2 variant have an increased risk for early-onset breast cancer. Men with a variant may develop earlier and more aggressive prostate cancer.

Screening and prevention
Guidelines recommend that women with a BRCA1 or BRCA2 variant should be screened for breast cancer earlier and more often. Risk-reducing surgery or medication may also be offered. Men with a variant should be screened for breast cancer. Screening guidelines for prostate cancer vary. This test is not a substitute for visits to a healthcare professional for recommended screenings. Results should be confirmed in a clinical setting before taking any medical action. It is important to talk with a healthcare professional before taking any medical action.

What do we test?

  • We test for three specific genetic variants: the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. These variants are associated with an increased risk of developing certain cancers.
  • We do not test for all possible variants in the BRCA1 and BRCA2 genes. More than 1,000 variants in these genes are known to increase cancer risk.
  • This test does not include variants in other genes linked to hereditary cancers.
  • Genetic testing for BRCA1 and BRCA2 variants in the general population is not currently recommended by any healthcare professional organizations.

Important ethnicities

  • The three variants included in this test are most commonly found in people of Ashkenazi Jewish descent.
  • In 23andMe customers of other ethnicities, between 0% and 0.1% of individuals has one of the three variants in this report.
  • This test does not include most of the BRCA1 and BRCA2 variants found in people of other ethnicities. Therefore, a "variants not detected" result is less informative for people with no Ashkenazi Jewish ancestry.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

View Frequently Asked Questions about this report here

What to know about:
Age-Related Macular Degeneration and our test

Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss among older adults. The disease results in damage to the central part of the retina (the macula), impairing vision needed for reading, driving, or even recognizing faces. This test includes the two most common variants associated with an increased risk of developing the condition.

Typical signs and symptoms

  • Blurred or distorted vision
  • Vision loss
  • Yellow fatty deposits in the retina called "drusen"
  • Blood or fluid leakage in the retina

Other factors that influence risk

  • Smoking
  • Age
  • Family history
  • Ethnicity
  • Diet

When symptoms develop
AMD is rarely diagnosed in people under the age of 50. Vision loss related to AMD usually becomes noticeable in a person's 60s or 70s and tends to worsen over time.

How it's treated
There is currently no known prevention or cure for AMD. Having regular eye exams can help detect early signs of the condition. Progression of AMD can be slowed with the use of certain treatments and medications.

What do we test?

  • Tests for the Y402H variant in the CFH gene and the A69S variant in the ARMS2 gene associated with an increased risk of developing AMD.
  • Genetic testing for AMD is not currently recommended by any healthcare professional organizations.

Relevant ethnicities

  • The variants included in this test are common in many ethnicities, but are best studied in people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Alpha-1 Antitrypsin Deficiency and our test

AAT deficiency is a genetic condition that can lead to lung and liver disease. It is caused by decreased levels of the alpha-1 antitrypsin (AAT) protein. This test includes the two most common variants linked to this deficiency.

Potential signs and symptoms of AAT deficiency

  • Shortness of breath and wheezing
  • Chronic cough
  • Recurrent lung infections
  • Lung disease, including emphysema
  • Liver disease, including cirrhosis

Other factors that increase risk

Genetic variants are the only risk factor for AAT deficiency. In people with genetic risk variants, the chances of developing symptoms of AAT deficiency depend on lifestyle, environment, and other factors.

  • Smoking
  • Occupational and other exposures
  • Personal or family history of lung disease
  • Viral infections

When symptoms develop
Because it is a genetic condition, AAT deficiency is present at birth. Symptoms of lung disease usually appear later in life, and age of onset is strongly affected by smoking. Some people may never have symptoms of lung disease, especially if they don't smoke. Liver problems may develop anytime from infancy to adulthood.

How it's treated
There is currently no known cure. People with AAT deficiency are encouraged to avoid smoking and consider getting certain vaccinations. For those with symptoms, treatment focuses on management of lung and liver problems. Direct replacement of the AAT protein into the blood may be used to slow the progression of lung disease. Lung and liver transplants may be beneficial in some cases.

What do we test?

  • Tests for the PI*Z and PI*S variants in the SERPINA1 gene linked to AAT deficiency.
  • Testing for genetic variants associated with AAT deficiency is recommended under certain circumstances by several health professional organizations, including the American Thoracic Society.

Relevant ethnicities

  • The variants included in this test are most common and best studied in people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Celiac Disease and our test

Celiac disease is an autoimmune condition in which the consumption of gluten (found in wheat, barley, and rye) can result in damage to the small intestine. Celiac disease can lead to both digestive and non-digestive problems. This test includes two common variants associated with an increased risk of developing this condition.

Typical signs and symptoms

  • Diarrhea, gas, and bloating
  • Poor appetite
  • Skin rashes
  • Fatigue
  • Anemia
  • Headache

Other factors that influence risk

  • Gluten
  • Family history
  • Other conditions

When symptoms develop
Celiac disease can develop anytime from infancy to adulthood, most commonly between the ages of 10 and 40. In people with celiac disease, symptoms occur after consuming gluten.

How it's treated
Celiac disease can be effectively treated by removing all sources of gluten from the diet. This includes foods and drinks made with wheat, barley, and rye.

What do we test?

  • Tests for variants near the HLA-DQA1 and HLA-DQB1 genes linked to the HLA-DQ2.5 and HLA-DQ8 haplotypes. These haplotypes are associated with celiac disease.
  • Genetic testing for celiac disease is recommended under certain circumstances by several health professional organizations, including the American College of Gastroenterology.

Relevant ethnicities

  • The variants included in this test are common in many ethnicities, but are best studied in people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
G6PD Deficiency and our test

G6PD deficiency is a common genetic condition caused by defects in an enzyme called glucose-6-phosphate dehydrogenase, or G6PD. The G6PD enzyme helps protect red blood cells from damage. In people with G6PD deficiency, red blood cells are destroyed upon exposure to certain environmental triggers, which can lead to episodes of anemia. This test includes the most common variant linked to G6PD deficiency in people of African descent.

Typical signs and symptoms

  • Anemia
  • Dark urine
  • Fatigue
  • Pale skin
  • Shortness of breath
  • Jaundice (yellowing of the skin and eyes)

Other factors that influence risk

  • Certain medications
  • Certain infections
  • Certain foods

When symptoms develop
Because it is a genetic condition, G6PD deficiency is present at birth. However, people with this condition typically don't develop symptoms unless they are exposed to certain triggering factors. Many people with G6PD deficiency never develop symptoms.

How it's treated
Most people with G6PD deficiency do not require treatment. People with G6PD deficiency often manage their condition by avoiding certain medications and foods that may trigger symptoms. If a person is exposed to a trigger and develops anemia, symptoms usually clear up on their own. However, in some cases patients may require a blood transfusion.

What do we test?

  • Tests for the Val68Met variant in the G6PD gene linked to G6PD deficiency.
  • Genetic testing for G6PD deficiency in adults in the general population is not currently recommended by any healthcare professional organizations.

Relevant ethnicities

  • The variant included in this test is most common and best studied in people of African descent.
  • This variant is also found in populations with African ancestry, like Hispanics or Latinos.
  • This test does not include variants that are more common in people of Mediterranean, Middle Eastern, Asian, or Kurdish Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Hereditary Hemochromatosis (HFE‑Related) and our test

Hereditary hemochromatosis is a genetic condition characterized by absorption of too much dietary iron. This may lead to iron overload, which can cause damage to the joints and certain organs, such as the liver, skin, heart, and pancreas. This test includes the two most common variants linked to this condition.

Typical signs and symptoms

  • Joint and abdominal pain
  • Fatigue and weakness
  • Darkening of the skin
  • Liver disease
  • Heart disease
  • Diabetes

Other factors that influence risk

  • Age
  • Sex
  • Alcohol consumption
  • Diet

When symptoms develop
Because it is a genetic condition, hereditary hemochromatosis is present at birth. Many people with this condition never develop iron overload. Of those who do develop iron overload, only a small number develop symptoms. If men develop symptoms, they typically appear between 40 and 60 years of age. Women rarely develop symptoms, and when they do it tends to be after menopause.

How it's treated
People with hereditary hemochromatosis are typically monitored for symptoms or complications. Iron overload related to hereditary hemochromatosis is a treatable condition. In some patients, having blood drawn on a regular basis can help lower iron levels. People with iron overload are encouraged to avoid drinking alcohol to minimize liver damage and to limit intake of iron-rich food.

What do we test?

  • Tests for the C282Y and the H63D variants in the HFE gene linked to hereditary hemochromatosis.
  • Genetic testing for hereditary hemochromatosis is recommended under certain circumstances by several health professional organizations, including the American Association for the Study of Liver Diseases and the European Association for the Study of the Liver.

Relevant ethnicities

  • The variants included in this test are best studied in people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Hereditary Thrombophilia and our test

Hereditary thrombophilia is a predisposition to developing harmful blood clots. These harmful blood clots most commonly form in the legs and can travel to the lungs. This test includes the two most common variants linked to hereditary thrombophilia.

Typical signs and symptoms of harmful blood clots

  • Pain, tenderness, swelling, or redness in one or both legs
  • Chest pain
  • Difficulty breathing
  • Hereditary thrombophilia may also be associated with recurrent late pregnancy loss in some women.

Other risk factors for harmful blood clots

  • Major surgery
  • Age
  • Prolonged immobility
  • Oral contraceptives
  • Obesity

When symptoms develop
Hereditary thrombophilia is genetic, but the risk of developing harmful blood clots increases with age and other factors.

How it's treated
Hereditary thrombophilia typically does not require any ongoing treatment. In some cases medications can be used to prevent harmful blood clots from forming. Medications and surgery can also be used to break up existing clots.

What do we test?

  • Tests for the Factor V Leiden variant in the F5 gene and the Prothrombin G20210A variant in the F2 gene linked to hereditary thrombophilia.
  • Testing for genetic variants associated with hereditary thrombophilia is recommended by ACMG under certain circumstances. This test includes the two variants recommended for testing by ACMG.

Relevant ethnicities

  • The variants included in this test are most common and best studied in people of European descent.
  • These variants are also found in populations with European ancestry, like African Americans and Hispanics or Latinos.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Late-Onset Alzheimer's Disease and our test

Alzheimer's disease is characterized by memory loss, cognitive decline, and personality changes. Late-onset Alzheimer's disease is the most common form of Alzheimer's disease, developing after age 65. Many factors, including genetics, can influence a person's chances of developing the condition. This test includes the most common genetic variant associated with late-onset Alzheimer's disease.

Typical signs and symptoms

  • Memory loss that worsens over time
  • Mood and personality changes
  • Trouble planning or solving problems
  • Confusion with place or time
  • Difficulty performing daily life activities

Other factors that influence risk

  • Age
  • Sex
  • Family history
  • Heart health
  • Diet
  • Intellectual activity

When symptoms develop
Late-onset Alzheimer's disease develops after 65 years of age.

How it's treated
There is currently no known prevention or cure for Alzheimer's disease. Medication may be used to delay or ease symptoms.

What do we test?

  • Tests for the ε4 variant in the APOE gene associated with an increased risk of developing late-onset Alzheimer's disease.
  • This test does not identify or report on the ε2 and ε3 variants of the APOE gene. These variants are not associated with an increased risk of developing Alzheimer's disease.
  • Genetic testing for late-onset Alzheimer's disease is not currently recommended by any healthcare professional organizations.

Relevant ethnicities

  • The ε4 variant included in this test is found and has been studied in many ethnicities. Detailed risk estimates have been studied the most in people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Parkinson's Disease and our test

Parkinson's disease is characterized by tremor, muscle stiffness, and problems with movement. Many factors, including genetics, can influence a person's chances of developing Parkinson's disease. This test includes two genetic variants associated with increased risk of developing the condition.

Typical signs and symptoms

  • Tremor
  • Muscle stiffness
  • Slow movements
  • Problems with balance
  • Memory loss in some cases

Other factors that influence risk

  • Age
  • Sex
  • Family history
  • Exposure to certain chemicals

When symptoms develop
Parkinson's disease typically develops in adulthood, after 55 years of age.

How it's treated
There is currently no known prevention or cure for Parkinson's disease. Certain medications may be used to delay or ease symptoms. Speech, physical, and occupational therapies may also help with symptom management.

What do we test?

  • Tests for the G2019S variant in the LRRK2 gene and the N370S variant in the GBA gene associated with an increased risk of developing Parkinson's disease.
  • Genetic testing for Parkinson's disease is not currently recommended by any healthcare professional organizations.

Relevant ethnicities

  • The variants included in this test are most common and best studied in people of European, Ashkenazi Jewish, and North African Berber descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.


View sample report here View sample report here
View package insert here
Expand content

23andMe Carrier Status Tests

The following information applies to Carrier Status reports only.

What you should know

23andMe Carrier Status Tests:
What you should know

Carrier status tests detect genetic variants that can cause inherited conditions. These variants are often found primarily in certain ethnicities.

Being a carrier means you have one variant for the condition. Carriers typically don't have the condition but can pass the variant to their children.

Knowing your carrier status is important when having children. If you and your partner are both carriers, you may have a child with the condition.

Genetic counseling can help you understand your results and options. It is recommended before testing, and also if you are a carrier.

Expand content

Should you speak to a genetic counselor?

Should you speak to a genetic counselor?

We encourage you to learn more so you can decide whether testing is right for you. A genetic counselor, a healthcare professional with special training in genetic conditions, will be able to answer your specific questions and help you make an informed decision.

Genetic counselors can help you navigate common questions, such as:

  • What are the risks and benefits of testing?
  • Are there diseases that run in the family?
  • How do you handle potentially distressing information?
  • What are you hoping to find out from genetic testing?

Talk to your healthcare provider or click here to search for a genetic counselor near you (this link takes you to a page managed by the National Society of Genetic Counselors: http://www.aboutgeneticcounselors.com/).

Expand content

What to know about test results

What to know about test results

Possible test results*

0 Variants
You do not have the variant(s) we tested. There is still a chance that you could have a variant not covered by this test.


1 Variant**
You are a carrier and could pass the variant on to each of your children.


2 Variants***
You will most likely pass a variant on to each of your children.


Result not determined
Your result could not be determined.

* For some reports, a customer may receive a result indicating that they have two copies of a variant. In these cases, the customer will pass a variant on to each of his or her children.

** For some reports, customers with one copy of a variant will also be told that they are at risk for developing symptoms of the condition.

*** For some reports, customers with two variants (or two copies of a variant) will also be told that they are at risk for developing symptoms of the condition.


What to do with the results:

Have a family history of a genetic condition? Planning to have children?

  • Share your results with your doctor and discuss further testing options.
  • You can also discuss your results with a genetic counselor (this link takes you to a page managed by the National Society of Genetic Counselors to find a genetic counselor near you: http://www.aboutgeneticcounselors.com/).

Consider sharing your results with relatives.

  • Your information – as well as knowing their own carrier status – may be useful to them.
Expand content

What to know about our Carrier Status Tests

What to know about our Carrier Status Tests

Select a Condition

  • View sample report here
  • View package insert here

What to know about:
ARSACS and our test

ARSACS is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time. A person must have two variants in the SACS gene in order to have this condition.

Typical signs and symptoms

  • Muscle stiffness that worsens over time
  • Loss of sensation in hands and feet that worsens over time
  • Impaired movement and balance that worsens over time

When symptoms develop
Symptoms typically develop during early childhood.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.

What do we test?
1 variant in the SACS gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of French Canadian descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Agenesis of the Corpus Callosum with Peripheral Neuropathy and our test

ACCPN is a rare genetic disorder. It is characterized by an incomplete connection between the two sides of the brain. This causes developmental disability, weakness, and loss of sensation. A person must have two variants in the SLC12A6 gene in order to have this condition.

Typical signs and symptoms

  • Weakness and sensory loss that worsens over time
  • Poor or absent reflexes
  • Tremors
  • Developmental disability
  • Shortened lifespan

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on physical and occupational therapy as well as other forms of supportive care as symptoms worsen, often into adulthood.

What do we test?
1 variant in the SLC12A6 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of French Canadian descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Autosomal Recessive Polycystic Kidney Disease and our test

ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung problems as well as urinary tract infections and high blood pressure. A person must have two variants in the PKHD1 gene in order to have this condition.

Typical signs and symptoms

  • Kidney disease
  • Liver disease
  • Respiratory problems
  • High blood pressure
  • Urinary tract infections

When symptoms develop
Symptoms typically develop before birth or during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing the symptoms of kidney, lung, and liver disease, as well as managing blood pressure.

What do we test?
3 variants in the PKHD1 gene.

  • This test does not include a large fraction of PKHD1 variants that cause ARPKD in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test does not include a large fraction of PKHD1 variants that cause ARPKD in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Beta Thalassemia and Related Hemoglobinopathies and our test

Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems. A person must have two variants in the HBB gene in order to have this condition.

Typical signs and symptoms

  • Anemia
  • Fatigue
  • Enlarged liver and spleen
  • Poor growth and weight gain
  • Bone deformities
  • Iron buildup in multiple organs

When symptoms develop
Symptoms typically develop any time from late infancy (severe form) into adulthood (intermediate form).

How it's treated:
Treatment focuses on managing symptoms and preventing complications. Some individuals may require frequent blood transfusions.

What do we test?
10 variants in the HBB gene.

  • Symptoms of beta thalassemia may vary between people with the condition depending on the variants involved.
  • Carrier screening for beta thalassemia and related hemoglobinopathies is recommended by ACOG via complete blood count and hemoglobin electrophoresis for people of African, Southeast Asian, Mediterranean, Middle Eastern, and West Indian descent considering having children.

Relevant ethnicities:

  • This test is most relevant for people of Cypriot, Greek, Italian, and Sardinian descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Bloom Syndrome and our test

Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of infections and cancer. A person must have two variants in the BLM gene in order to have this condition.

Typical signs and symptoms

  • Small body size
  • Recurring infections
  • Cancer at a young age
  • Sun-sensitive skin
  • Infertility in men
  • Early menopause in women

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.

What do we test?
1 variant in the BLM gene.

  • Symptoms of Bloom syndrome may vary between people with the condition even if they have the same genetic variants.
  • Carrier testing for Bloom syndrome is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the variant recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Canavan Disease and our test

Canavan disease is a rare genetic disorder characterized by a loss of nerve cell function in the brain that worsens over time. A person must have two variants in the ASPA gene in order to have this condition.

Typical signs and symptoms

  • Developmental disability
  • Gradual loss of muscle tone
  • Seizures
  • Difficulty swallowing

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on preventing complications by monitoring diet, treating infectious diseases, and managing seizures.

What do we test?
3 variants in the ASPA gene.

  • Carrier testing for Canavan disease is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the two variants recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) and our test

PMM2-CDG is a rare genetic disorder that affects the nervous system and other parts of the body. It is characterized by developmental delay, muscle weakness, and failure to gain weight. A person must have two variants in the PMM2 gene in order to have this condition.

Typical signs and symptoms

  • Developmental delay
  • Muscle weakness
  • Failure to gain weight
  • Small head size and distinct facial features

When symptoms develop
Symptoms typically develop in infancy.

How it's treated:
There is currently no known cure. Treatment focuses on nutritional, occupational, speech, and physical therapy.

What do we test?
2 variants in the PMM2 gene.

  • Severity of symptoms can vary in people with this disorder, even when the same variants are involved.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Danish descent.
  • This test does not include a large fraction of PMM2 variants that cause PMM2-CDG in people of Dutch descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Cystic Fibrosis and our test

Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function. A person must have two variants in the CFTR gene in order to have this condition.

Typical signs and symptoms

  • Chronic cough
  • Lung infections
  • Pancreatic insufficiency
  • Malnutrition
  • Infertility in males

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as lung infections and malnutrition.

What do we test?
29 variants in the CFTR gene.

  • Symptoms of cystic fibrosis may vary depending on the variants involved.
  • the American College of Medical Genetics (ACMG) recommends carrier testing for cystic fibrosis for people of all ethnicities considering having children. This test includes 22 of 23 variants recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of European, Hispanic/Latino, and Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
D-Bifunctional Protein Deficiency and our test

DBPD is a rare genetic disorder. It is characterized by abnormal muscle tone, developmental disability, seizures, and early death. A person must have two variants in the HSD17B4 gene in order to have this condition.

Typical signs and symptoms

  • Abnormal muscle tone
  • Seizures
  • Developmental disability
  • Hearing and vision loss
  • Distinctive facial features
  • Early death

When symptoms develop
Symptoms typically develop at birth or during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.

What do we test?
2 variants in the HSD17B4 gene.

  • This test does not include the majority of HSD17B4 variants that cause DBPD in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test does not include the majority of HSD17B4 variants that cause DBPD in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Dihydrolipoamide Dehydrogenase Deficiency and our test

DLD deficiency is a rare genetic disorder. It is typically characterized by low muscle tone and episodes of brain injury accompanied by liver disease. A person must have two variants in the DLD gene in order to have this condition.

Typical signs and symptoms

  • Buildup of lactic acid in the body
  • Episodes of brain injury
  • Developmental disabilities
  • Decreased muscle tone
  • Liver disease
  • Abdominal pain and vomiting

When symptoms develop
Symptoms can develop anytime from infancy to adulthood

How it's treated:
There is currently no known cure. Treatment focuses on maintaining a stable metabolic state through diet. Blood tests can be used for routine monitoring and to guide dietary recommendations.

What do we test?
1 variant in the DLD gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Familial Dysautonomia and our test

Familial dysautonomia is a rare genetic disorder that affects many different parts of the body. It is characterized by severe dysfunction in different parts of the nervous system involved in movement, the senses, and involuntary (autonomic) functions. A person must have two variants in the IKBKAP gene in order to have this condition.

Typical signs and symptoms

  • Episodes of involuntary nerve impairment
  • Motor and sensory nerve impairment
  • Poor growth
  • Developmental delay

When symptoms develop
Symptoms are typically present at birth.

How it's treated:
There is currently no known cure. Treatment focuses on managing nerve dysfunction by providing medications and supportive care.

What do we test?
1 variant in the IKBKAP gene.

  • Carrier testing for familial dysautonomia is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Familial Hyperinsulinism (ABCC8-Related) and our test

ABCC8-related familial hyperinsulinism is a rare genetic disorder. It is characterized by very high levels of insulin production. This leads to episodes of low blood sugar, which can cause low energy, seizures, and brain damage if left untreated. People with ABCC8-related familial hyperinsulinism most often have two variants in the ABCC8 gene.

Typical signs and symptoms

  • High levels of insulin
  • Low blood sugar
  • Low energy
  • Irritability
  • Seizures
  • Brain damage

When symptoms develop
Symptoms typically develop during infancy or in early childhood.

How it's treated:
There is currently no known cure. Treatment depends on the severity of the condition. Some people can maintain healthy blood glucose levels through medication or diet. Other people may require surgery to remove part of the pancreas.

What do we test?
3 variants in the ABCC8 gene.

  • Symptoms of familial hyperinsulinism may vary between people with the condition even if they have the same genetic variants.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition. However, the American Congress of Obstetricians and Gynecologists (ACOG) notes that testing for familial hyperinsulinism may be considered for people of Ashkenazi Jewish descent who are considering having children.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Fanconi Anemia Group C and our test

Fanconi anemia group C is a rare genetic disorder. It is characterized by a decreased production of blood cells, birth defects, and an increased risk of infections and cancer. A person must have two variants in the FANCC gene in order to have this condition.

Typical signs and symptoms

  • Skeletal and organ malformations at birth
  • Increased risk of cancer
  • Frequent infections
  • Decreased blood cell production
  • Very short height
  • Areas of lighter or darker skin color

When symptoms develop
Symptoms can develop anytime from birth to adulthood.

How it's treated:
There is currently no known cure. Treatment focuses on increasing the number of blood cells, managing disabilities, and screening for cancer. Stem cell transplants may correct blood cell problems in some cases.

What do we test?
3 variants in the FANCC gene.

  • Carrier testing for Fanconi anemia group C is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the one variant recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
GRACILE Syndrome and our test

GRACILE syndrome is a rare genetic disorder. It is characterized by impaired growth before birth, iron buildup, liver damage, and death in infancy. A person must have two variants in the BCS1L gene in order to have this condition.

Typical signs and symptoms

  • Small size at birth
  • Poor growth and weight gain
  • Iron buildup in the liver
  • Buildup of lactic acid in the body
  • Kidney and liver problems
  • Death in infancy

When symptoms develop
Symptoms typically develop before birth.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and ultimately providing end-of-life supportive care.

What do we test?
1 variant in the BCS1L gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Finnish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Gaucher Disease Type 1 and our test

Gaucher disease type 1 is a rare genetic disorder that can affect many organs. It often leads to an enlarged liver and spleen, as well as bone abnormalities. A person must have two variants in the GBA gene, or two copies of a variant, in order to have Gaucher disease type 1.

Typical signs and symptoms

  • Enlargement of the liver and spleen
  • Bone weakness and pain
  • Growth impairment
  • Anemia and low platelet count

When symptoms develop
Symptoms can develop anytime from childhood to adulthood and can vary from mild to severe. Some people may never develop symptoms.

How it's treated:
There is currently no known cure. Treatment varies depending on the severity of symptoms, but often includes enzyme replacement therapy.

What do we test?
3 variants in the GBA gene.

  • The severity of symptoms, and when they develop, can vary greatly in people with Gaucher disease type 1. Some people may never develop symptoms.
  • The 84GG and V394L variants can occasionally be found in people with the more severe, type 2 or type 3 forms of Gaucher disease. People with two copies of the N370S variant, or one copy of N370S and one copy of another variant, typically have the less severe, type 1 form of the disease.
  • Carrier testing for Gaucher disease type 1 is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes two of four variants recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Glycogen Storage Disease Type Ia and our test

GSDIa is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and poor growth. A person must have two variants in the G6PC gene in order to have this condition.

Typical signs and symptoms

  • Low blood sugar
  • Liver enlargement
  • Very short height
  • Kidney and liver problems
  • Anemia

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing diet to control blood sugar levels and prevent problems with metabolism.

What do we test?
1 variant in the G6PC gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Glycogen Storage Disease Type Ib and our test

GSDIb is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and frequent infections. A person must have two variants in the SLC37A4 gene in order to have this condition.

Typical signs and symptoms

  • Low blood sugar
  • Liver enlargement
  • Kidney and liver problems
  • Frequent infections
  • Very short height

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing diet in order to control blood sugar levels and prevent problems with metabolism. Medication can help prevent infections.

What do we test?
2 variants in the SLC37A4 gene.

  • This test does not include the majority of SLC37A4 variants that cause GSDIb in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test does not include the majority of SLC37A4 variants that cause GSDIb in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Hereditary Fructose Intolerance and our test

Hereditary fructose intolerance is a rare genetic disorder. It is characterized by low blood sugar levels, stomach pain, and vomiting after eating fructose. A person must have two variants in the ALDOB gene in order to have this condition.

Typical signs and symptoms

  • Nausea and vomiting
  • Low blood sugar
  • Stomach pain
  • Failure to gain weight
  • Liver disease
  • Kidney disease

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Maintaining a fructose-free diet may reduce or prevent symptoms.

What do we test?
4 variants in the ALDOB gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related) and our test

LAMB3-related JEB is a rare genetic disorder. The Herlitz form is characterized by severe blistering of the skin and mucous membranes and, typically, death in infancy. A person must have two variants in the LAMB3 gene in order to have this condition.

Typical signs and symptoms

  • Fragile skin and mucous membranes
  • Severe blistering
  • Recurrent infections
  • Difficulty swallowing, speaking, and breathing

When symptoms develop
Symptoms of Herlitz JEB are typically present at birth.

How it's treated:
There is currently no known cure. Treatment focuses on protecting the skin, wound care, and managing infections and other complications.

What do we test?
3 variants in the LAMB3 gene.

  • This test does not include the majority of LAMB3 variants that cause LAMB3-related JEB in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test does not include the majority of LAMB3 variants that cause LAMB3-related JEB in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Leigh Syndrome, French Canadian Type and our test

LSFC is a rare genetic disorder. It is characterized by life-threatening periods of lactic acid buildup and brain injury as well as failure to gain weight. A person must have two variants in the LRPPRC gene in order to have this condition.

Typical signs and symptoms

  • Buildup of lactic acid in the body
  • Episodes of brain injury
  • Failure to gain weight
  • Poor muscle control and muscle spasms
  • Distinctive facial features
  • Early death

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on providing nutritional support, managing symptoms, and preventing complications.

What do we test?
1 variant in the LRPPRC gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of French Canadian descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Limb-Girdle Muscular Dystrophy Type 2D and our test

LGMD2D is a rare genetic disorder. It is characterized by muscle weakness that worsens over time as well as heart and lung problems. A person must have two variants in the SGCA gene in order to have this condition.

Typical signs and symptoms

  • Wasting of arm and leg muscles closest to the torso
  • Large calf muscles
  • Curvature of the spine
  • Heart and lung problems
  • Shortened lifespan

When symptoms develop
Symptoms typically develop between early childhood and adolescence.

How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle function, preventing skeletal problems, and monitoring heart and lung function.

What do we test?
1 variant in the SGCA gene.

  • Symptoms can vary greatly in people with this condition, and can be mild in some cases.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is expected to identify the majority of carriers of Finnish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Limb-Girdle Muscular Dystrophy Type 2E and our test

LGMD2E is a rare genetic disorder. It is characterized by muscle weakness that worsens over time as well as heart and lung problems. A person must have two variants in the SGCB gene in order to have this condition.

Typical signs and symptoms

  • Wasting of arm and leg muscles closest to the torso
  • Large calf muscles
  • Curvature of the spine
  • Heart and lung problems
  • Shortened lifespan

When symptoms develop
Symptoms typically develop between early childhood and adolescence.

How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle function, preventing skeletal problems, and monitoring heart and lung function.

What do we test?
1 variant in the SGCB gene.

  • Symptoms can vary greatly in people with this condition, and can be mild in some cases.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Southern Indiana Amish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Limb-Girdle Muscular Dystrophy Type 2I and our test

LGMD2I is a rare genetic disorder. It is characterized by muscle weakness that worsens over time as well as heart and lung problems. A person must have two variants in the FKRP gene in order to have this condition.

Typical signs and symptoms

  • Wasting of arm and leg muscles closest to the torso
  • Heart and lung problems
  • Large calf muscles
  • Curvature of the spine
  • Shortened lifespan

When symptoms develop
Symptoms typically develop between early childhood and early adulthood.

How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle function, preventing skeletal problems, and monitoring heart and lung function.

What do we test?
1 variant in the FKRP gene.

  • Symptoms can vary greatly in people with this condition, and can be mild in some cases.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is expected to identify the majority of carriers of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
MCAD Deficiency and our test

MCAD deficiency is a rare genetic disorder characterized by episodes of very low blood sugar while fasting or under stress. A person must have two variants in the ACADM gene in order to have this condition.

Typical signs and symptoms

  • Severely low blood sugar
  • Fatigue
  • Vomiting
  • Seizures
  • Liver problems

When symptoms develop
Symptoms typically develop during infancy or early childhood.

How it's treated:
There is currently no known cure. Early diagnosis, avoiding fasting, and making certain diet modifications can help limit symptoms and prevent complications.

What do we test?
4 variants in the ACADM gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Maple Syrup Urine Disease Type 1B and our test

MSUD 1B is a rare genetic disorder. It is characterized by poor growth and feeding, slowed mental and physical processes, and urine with a distinct, sweet odor. A person must have two variants in the BCKDHB gene in order to have this condition.

Typical signs and symptoms

  • Sweet-smelling urine
  • Poor feeding and growth
  • Lethargy
  • Developmental delay
  • Coma and death if untreated

When symptoms develop
Symptoms typically develop during infancy or in early childhood.

How it's treated:
There is currently no known cure. Strict diet management, and in some cases liver transplantation, may reduce symptoms and slow or stop disease progression.

What do we test?
2 variants in the BCKDHB gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Mucolipidosis Type IV and our test

Mucolipidosis IV is a rare genetic disorder characterized by developmental delay and gradual vision loss in childhood. A person must have two variants in the MCOLN1 gene in order to have this condition.

Typical signs and symptoms

  • Developmental disability
  • Vision impairment that worsens over time
  • Decreased muscle tone

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.

What do we test?
1 variant in the MCOLN1 gene.

  • Carrier testing for mucolipidosis IV is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG and does not include the second most common variant found in people of Ashkenazi Jewish descent.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.
  • This test does not include the second most common variant found in people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Neuronal Ceroid Lipofuscinosis (CLN5-Related) and our test

CLN5-related NCL is a rare genetic disorder. It is characterized by seizures, vision loss, and intellectual disability. A person must have two variants in the CLN5 gene in order to have this form of NCL.

Typical signs and symptoms

  • Intellectual decline
  • Seizures
  • Loss of ability to control muscles
  • Muscle spasms
  • Vision loss leading to blindness
  • Shortened lifespan

When symptoms develop
Symptoms typically develop in early childhood.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms, providing physical therapy, and using seizure medications as needed.

What do we test?
1 variant in the CLN5 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Finnish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Neuronal Ceroid Lipofuscinosis (PPT1-Related) and our test

PPT1-related NCL is a rare genetic disorder. It is characterized by seizures, vision loss, and intellectual disability. A person must have two variants in the PPT1 gene in order to have this form of NCL.

Typical signs and symptoms

  • Intellectual decline
  • Seizures
  • Loss of ability to control muscles
  • Muscle spasms
  • Vision loss leading to blindness
  • Death in childhood

When symptoms develop
Symptoms typically develop during infancy or in early childhood.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms, providing physical therapy, and using seizure medications as needed.

What do we test?
3 variants in the PPT1 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Finnish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Niemann-Pick Disease Type A and our test

Niemann-Pick disease type A is a rare genetic disorder. It is characterized by an enlarged liver and spleen, developmental disability, recurring lung infections, and early death. A person must have two variants in the SMPD1 gene in order to have this condition.

Typical signs and symptoms

  • Enlarged liver and spleen
  • Severe developmental disability
  • Recurring lung infections
  • Poor weight gain
  • Death in early childhood

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications through physical and occupational therapy.

What do we test?
3 variants in the SMPD1 gene.

  • Carrier testing for Niemann-Pick disease type A is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the three variants recommended for testing by ACMG.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Nijmegen Breakage Syndrome and our test

Nijmegen breakage syndrome is a rare genetic disorder. It is characterized by developmental delay, recurring infections, and an increased risk of cancer. A person must have two variants in the NBN gene in order to have this condition.

Typical signs and symptoms

  • Small head size
  • Developmental delay
  • Recurring infections
  • Increased risk for cancer

When symptoms develop
Symptoms typically develop before birth.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.

What do we test?
1 variant in the NBN gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is expected to identify the majority of carriers in people of Eastern European descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) and our test

DFNB1 is an inherited condition characterized by mild to severe hearing loss that is present from birth. People with GJB2-related DFNB1 most often have two variants in the GJB2 gene.

Typical signs and symptoms

  • Mild to profound hearing loss at birth

When symptoms develop
Symptoms are typically present at birth.

How it's treated:
There is currently no known cure. Treatment options include hearing aids, cochlear implants, and educational programs for people with hearing loss.

What do we test?
2 variants in the GJB2 gene.

  • The severity of hearing loss can vary, but there are no other symptoms associated with this condition.
  • Most people with DFNB1 have two variants in the GJB2 gene. However, some people with the condition have one variant in the GJB2 gene and a second variant not tested (a deletion) in the GJB6 gene.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish and European descent.
  • This test does not include the majority of GJB2 variants that cause DFNB1 in people of East Asian descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related) and our test

Pendred syndrome and DFNB4 are inherited conditions characterized by deafness and structural problems with the inner ear. Pendred syndrome is sometimes characterized by an enlarged thyroid. People with Pendred syndrome or DFNB4 most often have two variants in the SLC26A4 gene.

Typical signs and symptoms

  • Hearing loss at birth or in early childhood
  • Abnormal inner ear development
  • Enlarged thyroid
  • Poor balance

When symptoms develop
Symptoms typically develop at birth or during childhood.

How it's treated:
There is currently no known cure. Early intervention is recommended to teach alternative communication skills. Hearing aids or cochlear implants may treat hearing loss. Medication can treat low thyroid hormone levels.

What do we test?
6 variants in the SLC26A4 gene.

  • Symptoms of Pendred syndrome and DFNB4 vary in severity depending on which variants are causing the condition.
  • This test does not include a large fraction of SLC26A4 variants that cause Pendred syndrome or DFNB4 in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for these conditions.

Relevant ethnicities:

  • This test does not include a large fraction of SLC26A4 variants that cause Pendred syndrome or DFNB4 in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Phenylketonuria and Related Disorders and our test

PKU is part of a spectrum of related genetic disorders. These disorders are characterized by intellectual disability, seizures, and skin problems. A person must have two variants in the PAH gene in order to have one of these disorders.

Typical signs and symptoms

  • Intellectual disability
  • Seizures
  • Behavioral problems
  • Eczema

When symptoms develop
Symptoms typically develop soon after birth.

How it's treated:
There is currently no known cure. Diet management throughout life may help reduce common PKU symptoms. For some people, use of medication can minimize intellectual disability and seizures.

What do we test?
23 variants in the PAH gene.

  • PKU and related disorders can be managed with appropriate treatment.
  • Symptoms of these disorders vary in severity depending on which variants are causing the condition.
  • There are currently no professional guidelines in the U.S. for carrier testing for these conditions.

Relevant ethnicities:

  • This test is most relevant for people of Northern European descent, particularly those of Irish ancestry.
  • This test does not include a large fraction of PAH variants that cause PKU and related disorders in people of other ethnicities.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Primary Hyperoxaluria Type 2 and our test

PH2 is a rare genetic disorder. It is characterized by frequent kidney stones that can lead to kidney failure if left untreated. A person must have two variants in the GRHPR gene in order to have this condition.

Typical signs and symptoms

  • Frequent kidney stones
  • Kidney failure if untreated

When symptoms develop
Symptoms typically develop during childhood.

How it's treated:
There is currently no known cure. Treatment focuses on managing oxalate levels and hydration in order to slow the development of kidney disease. Kidney transplantation is considered in some cases.

What do we test?
1 variant in the GRHPR gene.

  • This test does not include a large fraction of GRHPR variants that cause PH2.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is expected to identify the majority of carriers in people of European descent.
  • This test does not include the most common variant found in people of Asian descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Rhizomelic Chondrodysplasia Punctata Type 1 and our test

RCDP1 is a rare genetic disorder. It is characterized by bone abnormalities, cataracts, and intellectual disability. A person must have two variants in the PEX7 gene in order to have this condition.

Typical signs and symptoms

  • Skeletal problems
  • Childhood cataracts
  • Intellectual disability
  • Frequent lung infections

When symptoms develop
Symptoms are typically present at birth or develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through physical therapy. Treatment may include cataract removal.

What do we test?
1 variant in the PEX7 gene.

  • This test does not include a large fraction of PEX7 variants that cause RCDP1 in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test does not include a large fraction of PEX7 variants that cause RCDP1 in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Salla Disease and our test

Salla disease is a rare genetic disorder. It is characterized by a gradual loss of muscle tone and coordination, as well as impaired growth, intellectual disability, and seizures. A person must have two variants in the SLC17A5 gene in order to have this condition.

Typical signs and symptoms

  • Intellectual disability
  • Loss of muscle tone and coordination over time
  • Seizures

When symptoms develop
Symptoms typically develop during infancy or childhood.

How it's treated:
There is currently no known cure. Treatment focuses on managing seizures and providing supportive care through speech, physical, and occupational therapy.

What do we test?
1 variant in the SLC17A5 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Finnish and Swedish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Sickle Cell Anemia and our test

Sickle cell anemia is a genetic disorder characterized by anemia, episodes of pain, and frequent infections. A person must have two HbS variants in the HBB gene in order to have this condition.

Typical signs and symptoms

  • Anemia
  • Fatigue
  • Episodes of pain
  • Frequent infections
  • Stroke
  • Injury to multiple organs

When symptoms develop
Symptoms typically develop by early childhood.

How it's treated:
Treatment focuses on managing pain and preventing complications. Certain medications or blood transfusions may improve symptoms.

What do we test?
1 variant in the HBB gene.

  • Carrier screening for hemoglobinopathies such as sickle cell anemia is recommended by the American Congress of Obstetricians and Gynecologists (ACOG) via complete blood count and hemoglobin electrophoresis for people of African, Southeast Asian, Mediterranean, Middle Eastern, and West Indian descent considering having children.

Relevant ethnicities:

  • This test is most relevant for people of African descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Sjögren-Larsson Syndrome and our test

Sjögren-Larsson syndrome is a rare genetic disorder. It is characterized by scaly dry skin, intellectual disability, and persistent muscle stiffness. A person must have two variants in the ALDH3A2 gene in order to have this condition.

Typical signs and symptoms

  • Dry scaly skin
  • Persistent muscle stiffness
  • Intellectual disability

When symptoms develop
Symptoms typically develop in infancy or early childhood.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech and physical therapy as well as skin care.

What do we test?
1 variant in the ALDH3A2 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Swedish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Tay-Sachs Disease and our test

Tay-Sachs disease is a rare genetic disorder. It is characterized by a loss of strength and coordination over time as well as developmental disability, seizures, and early death. A person must have two variants in the HEXA gene in order to have this condition.

Typical signs and symptoms

  • Loss of strength and coordination that worsens over time
  • Severe developmental disability
  • Vision loss
  • Seizures
  • Death in early childhood in severe cases

When symptoms develop
Symptoms typically develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms, providing nutritional support, and using seizure medications as needed.

What do we test?
4 variants in the HEXA gene.

  • Symptoms of this disorder vary in severity depending on which variants are causing the condition.
  • Carrier testing for Tay-Sachs disease is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the three variants recommended for testing by ACMG.
  • When carrier testing for Tay-Sachs disease is indicated in people who are not of Ashkenazi Jewish descent, the American College of Medical Genetics (ACMG) recommends biochemical carrier screening as a first step. Genetic testing can then be used to confirm carrier status in people with a positive result.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish and Cajun descent.
  • This test does not include the most common variant found in people of French Canadian descent with Tay-Sachs disease.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Tyrosinemia Type I and our test

Tyrosinemia type I is a rare genetic disorder. It is characterized by high levels of the amino acid tyrosine that can lead to liver and kidney disease. A person must have two variants in the FAH gene in order to have tyrosinemia type I.

Typical signs and symptoms

  • High levels of tyrosine in the blood
  • Liver and kidney problems
  • Growth delay
  • Episodes of pain, weakness, and mental distress
  • Increased risk of liver cancer

When symptoms develop
Symptoms typically develop during infancy or in childhood.

How it's treated:
There is currently no known cure. Medication and a low protein diet may decrease liver and kidney damage. Liver transplantation is considered in some cases.

What do we test?
4 variants in the FAH gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of French Canadian and Finnish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Usher Syndrome Type 1F and our test

Usher 1F is a rare genetic disorder. It is characterized by deafness at birth, poor balance, and vision loss that worsens over time. A person must have two variants in the PCDH15 gene in order to have this condition.

Typical signs and symptoms

  • Deafness in both ears at birth
  • Loss of vision beginning in childhood
  • Poor balance
  • Delays in walking

When symptoms develop
Symptoms typically develop at birth.

How it's treated:
There is currently no known cure. Deafness may be treated with cochlear implants. Vision loss may be monitored with routine eye exams. Early intervention is recommended to teach alternative communication skills.

What do we test?
1 variant in the PCDH15 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Usher Syndrome Type 3A and our test

Usher 3A is a rare genetic disorder. It is characterized by hearing and vision loss that begins in late childhood and worsens over time. A person must have two variants in the CLRN1 gene in order to have this condition.

Typical signs and symptoms

  • Hearing loss in childhood or early teens
  • Gradual vision loss
  • Night blindness by mid-teens
  • Blindness by mid-adulthood

When symptoms develop
Symptoms typically develop during late childhood or adolescence.

How it's treated:
There is currently no known cure. Hearing loss may be treated with hearing aids. Vision loss may be monitored with routine eye exams. Early intervention is recommended to teach alternative communication skills.

What do we test?
1 variant in the CLRN1 gene.

  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test is most relevant for people of Ashkenazi Jewish descent.
  • This test does not include variants commonly found in people of Finnish descent with Usher 3A.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.

What to know about:
Zellweger Syndrome Spectrum (PEX1-Related) and our test

ZSS is a group of rare genetic disorders. The form of ZSS covered by this report is characterized by impaired hearing, vision, and organ function, as well as developmental disability and early death. A person must have two variants in the PEX1 gene in order to have this form of ZSS.

Typical signs and symptoms

  • Decreased muscle tone
  • Seizures
  • Failure to gain weight
  • Impaired vision and hearing
  • Developmental disability
  • Early death (severe form)

When symptoms develop
Symptoms are typically present at birth or develop during infancy.

How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.

What do we test?
1 variant in the PEX1 gene.

  • This test does not include the majority of PEX1 variants that cause ZSS in any ethnicity.
  • There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

  • This test does not include the majority of PEX1 variants that cause ZSS in any ethnicity.

Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing. Greater than 99% of test results were correct. While unlikely, this test may provide false positive or false negative results. For more details on the analytical performance of this test, refer to the package insert.


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