You are made of cells. And the cells in your body have 23 pairs of chromosomes. Your
chromosomes are made of DNA, which can tell you a lot about you. Explore your 23 pairs
today.
Your DNA analysis is performed in US laboratories that are certified to meet CLIA
standards—the Clinical Laboratory Improvement Amendments of 1988.
A CLIA-certified lab must meet certain quality standards, including qualifications
for individuals who perform the test and other standards that ensure the accuracy
and reliability of results.
We use leading technology to genotype your DNA—a custom Illumina HumanOmniExpress-24
format chip.
Here are just a few of the things people frequently ask about 23andMe.
If you don't see your question here,
get in touch with us.
What is the history of the company?
23andMe was founded in 2006 to help people access, understand and benefit
from the human genome.
We have more than two million genotyped customers around the world.
In 2015, 23andMe was granted authorization by the US Food and Drug
Administration (FDA) to market the first direct-to-consumer genetic test.
What services do you provide?
23andMe offers two Personal Genetic Services: Health + Ancestry and
Ancestry. Both services require submitting a saliva sample using our saliva
collection kit that you send to the lab for analysis.
Our Health + Ancestry Service provides insights on your genetic health risks*, carrier status*,
traits, wellness and ancestry. We analyze, compile and distill the information extracted from
your DNA into 75+ reports you can access online and share with family and friends.
See full list of reports offered.
Our Ancestry Service helps you understand who you are, where your DNA comes from and your
family story. We analyze, compile and distill your DNA information into reports on your
Ancestry Composition, Maternal &
Paternal Haplogroups, Neanderthal Ancestry, Your DNA Family and provide a DNA
Relatives tool to enable you to connect with relatives who share similar DNA.
How can I upgrade from Ancestry to Health + Ancestry?
If you have the Health + Ancestry Service you have
access to the full 23andMe experience. If you only have
the Ancestry Service, you can easily upgrade to the
Health + Ancestry Service for $125 which gives you access
to all 75+ reports on ancestry, traits and health. You
are eligible to upgrade once you have received your
Ancestry reports. To upgrade, log in to your 23andMe
account and navigate to the Settings page. You will
receive immediate access to your new health reports.
You can save $25 if you purchase the $199 Health + Ancestry Service
instead of the $99 Ancestry Service as the fee for adding health
reports later is $125 ($224 total).
How accurate are the reports?
23andMe is the first and only genetic service available
directly to you that includes reports that meet FDA
standards for clinical and scientific validity.
Our rigorous quality standards:
Genetic Health Risk* and Carrier Status* reports meet FDA criteria for
being scientifically and clinically valid
All saliva samples are processed in CLIA-certified and CAP-accredited labs
Our DNA collection kit is FDA-cleared for use with our Genetic Health Risk
and Carrier Status reports manufactured in accordance with FDA's Good Manufacturing
Practice regulations
Genotyping is a well-established and reliable platform for analyzing DNA
Our team of scientists and medical experts use a rigorous process to
develop and design each report, ensuring validity and ease of use
Ancestry percentages are derived from our powerful, well-tested system
that provides you with ancestry estimates down to the 0.1%
How is my privacy protected?
You choose how your genetic information is used and shared with others. We
tell you how those choices are implemented and how we collect, use and
disclose your information.
We will not share your individual-level information with any third party
without your explicit consent
We support the Genetic Information Nondiscrimination Act (GINA) and other
similar laws that protect individuals from being discriminated against
based on their genetics and will not provide your information or results
to employers or health insurance companies
We have guidelines and policies in place to protect the personal
information of children as well as incapacitated or deceased individuals
We do not provide information to law enforcement unless we are required
to comply with a valid subpoena or a court-ordered request
*The 23andMe PGS test uses qualitative genotyping to detect clinically relevant variants in the genomic DNA of adults
from saliva collected using an FDA-cleared collection device (Oragene·DX model OGD-500.001) for the purpose of
reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any
disease. The relevance of each report varies based on ethnicity. Each genetic health risk report describes if a
person has variants associated with a higher risk of developing a disease, but does not describe a person's overall
risk of developing the disease. These reports are not intended to tell you anything about your current state of
health, or to be used to make medical decisions, including whether or not you should take a medication or how much of
a medication you should take. Our carrier status reports can be used to determine carrier status, but cannot
determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything
about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn
child's risk of developing a particular disease later in life. For Gaucher Disease Type 1, we provide a single report
that includes information on both carrier status and genetic health risk.
The Parkinson's Disease genetic health risk report (i) is indicated for reporting of the G2019S variant in the LRRK2
gene, and the N370S variant in the GBA gene, (ii) describes if a person has variants associated with an increased risk
of developing Parkinson's disease, and (iii) is most relevant for people of European, Ashkenazi Jewish, and North
African Berber descent.
1NO PURCHASE NECESSARY. A purchase will not improve your chances of winning. Open to legal
residents of the 50 U.S. states and D.C., 18 or older. Sweepstakes ends at 11:59 pm PT on 8/3/17. You must complete
the 23andMe Personal Genetic Service™ to qualify to win. For free entry method and complete details,
see Official Rules that govern
this Sweepstakes. Number of travel destinations subject to Official Rules. Sponsor: 23andMe, Inc. Void where
prohibited.
Ancestry reports
5 reports
Ancestry Composition
Maternal Haplogroup
Paternal Haplogroup
Neanderthal Ancestry
Your DNA Family
Genetic Health Risk reports*
4 reports
Alpha-1 Antitrypsin Deficiency
2 variants
in the SERPINA1 gene;
relevant for European descent
Hereditary Thrombophilia
2 variants
in the F5 and F2 genes;
relevant for European descent
Late-Onset Alzheimer's Disease
1 variant
in the APOE gene;
variant found and studied in many ethnicities
Parkinson's Disease
2 variants
in the LRRK2 and GBA genes;
relevant for European, Ashkenazi Jewish, North African Berber descent
Wellness reports
5+ reports
Alcohol Flush Reaction
Caffeine Consumption
Deep Sleep
Genetic Weight
Lactose Intolerance
Muscle Composition
Saturated Fat and Weight
Sleep Movement
Traits reports
15+ traits
Asparagus Odor Detection
Back Hair (available for men only)
Bald Spot (available for men only)
Bitter Taste Perception
Cheek Dimples
Cleft Chin
Earlobe Type
Earwax Type
Eye Color
Finger Length Ratio
Freckles
Hair Curliness
Light or Dark Hair
Male Hair Loss (available for men only)
Newborn Hair Amount
Photic Sneeze Reflex
Red Hair
Skin Pigmentation
Sweet Taste Preference
Toe Length Ratio
Unibrow
Widow's Peak
Carrier Status reports*
40+ reports
ARSACS
1 variant in the SACS
gene; relevant for French Canadian descent
Agenesis of the Corpus Callosum with Peripheral Neuropathy
1 variant in the SLC12A6
gene; relevant for French Canadian descent
Autosomal Recessive Polycystic Kidney Disease
3 variants in the PKHD1
gene
Beta Thalassemia and Related Hemoglobinopathies
10 variants in the HBB
gene; relevant for Cypriot, Greek, Italian, Sardinian descent
Bloom Syndrome
1 variant in the BLM
gene; relevant for Ashkenazi Jewish descent
Canavan Disease
3 variants in the ASPA
gene; relevant for Ashkenazi Jewish descent
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
2 variants in the PMM2
gene; relevant for Danish descent
Cystic Fibrosis
28 variants in the CFTR
gene; relevant for European, Hispanic/Latino, Ashkenazi Jewish descent
D-Bifunctional Protein Deficiency
2 variants in the HSD17B4
gene
Dihydrolipoamide Dehydrogenase Deficiency
1 variant in the DLD
gene; relevant for Ashkenazi Jewish descent
Familial Dysautonomia
1 variant in the IKBKAP
gene; relevant for Ashkenazi Jewish descent
Fanconi Anemia Group C
3 variants in the FANCC
gene; relevant for Ashkenazi Jewish descent
GRACILE Syndrome
1 variant in the BCS1L
gene; relevant for Finnish descent
Gaucher Disease Type 1
3 variants in the GBA
gene; relevant for Ashkenazi Jewish descent
Glycogen Storage Disease Type Ia
1 variant in the G6PC
gene; relevant for Ashkenazi Jewish descent
Glycogen Storage Disease Type Ib
2 variants in the SLC37A4
gene
Hereditary Fructose Intolerance
3 variants in the ALDOB
gene; relevant for European descent
1 variant in the LRPPRC
gene; relevant for French Canadian descent
Limb-Girdle Muscular Dystrophy Type 2D
1 variant in the SGCA
gene; relevant for Finnish descent
Limb-Girdle Muscular Dystrophy Type 2E
1 variant in the SGCB
gene; relevant for Southern Indiana Amish descent
Limb-Girdle Muscular Dystrophy Type 2I
1 variant in the FKRP
gene; relevant for European descent
MCAD Deficiency
3 variants in the ACADM
gene; relevant for Northern European descent
Maple Syrup Urine Disease Type 1B
2 variants in the BCKDHB
gene; relevant for Ashkenazi Jewish descent
Mucolipidosis Type IV
1 variant in the MCOLN1
gene; relevant for Ashkenazi Jewish descent
Neuronal Ceroid Lipofuscinosis (CLN5-Related)
1 variant in the CLN5
gene; relevant for Finnish descent
Neuronal Ceroid Lipofuscinosis (PPT1-Related)
3 variants in the PPT1
gene; relevant for Finnish descent
Niemann-Pick Disease Type A
3 variants in the SMPD1
gene; relevant for Ashkenazi Jewish descent
Nijmegen Breakage Syndrome
1 variant in the NBN
gene; relevant for Eastern European descent
Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
2 variants in the GJB2
gene; relevant for Ashkenazi Jewish, European descent
Pendred Syndrome and DFNB4 Hearing Loss
6 variants in the SLC26A4
gene
Phenylketonuria and Related Disorders
23 variants in the PAH
gene; relevant for Northern European descent
Primary Hyperoxaluria Type 2
1 variant in the GRHPR
gene; relevant for European descent
Rhizomelic Chondrodysplasia Punctata Type 1
1 variant in the PEX7
gene
Salla Disease
1 variant in the SLC17A5
gene; relevant for Finnish, Swedish descent
Sickle Cell Anemia
1 variant in the HBB
gene; relevant for African descent
Sjögren-Larsson Syndrome
1 variant in the ALDH3A2
gene; relevant for Swedish descent
Tay-Sachs Disease
4 variants in the HEXA
gene; relevant for Ashkenazi Jewish, Cajun descent
Tyrosinemia Type I
4 variants in the FAH
gene; relevant for French Canadian, Finnish descent
Usher Syndrome Type 1F
1 variant in the PCDH15
gene; relevant for Ashkenazi Jewish descent
Usher Syndrome Type 3A
1 variant in the CLRN1
gene; relevant for Ashkenazi Jewish descent
Zellweger Syndrome Spectrum (PEX1-Related)
1 variant in the PEX1
gene
FDA Information
Select report category
Learn more about Genetic Health Risks and Carrier Status tests, genetic
counseling and what to know about test results.
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
FDA Information
23andMe Genetic Health Risk Reports
The following information applies to Genetic Health Risk reports only.
What you should know
FDA Information
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. Not all genetic variants that may affect your risk are included.
Having a risk variant does not mean you will definitely develop a health condition. Many people with an
increased risk never develop the condition.
Other factors like lifestyle and environment can affect whether a person develops the condition. Our
reports cannot tell you about your overall risk and they do not diagnose any health conditions.
Genetic counseling can help you understand your results and options. It is
recommended before testing, and if you have a risk variant.
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 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/).
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. Other genetic and non-genetic factors may 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 doesn't 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.
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.
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.
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/).
This may be especially useful if you are of mixed ethnicity.
Some products and services claiming to treat certain conditions are unproven and could potentially be
harmful. Always consult with a healthcare professional about any medical actions.
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.
Some people may be upset by learning about personal risks, and risks for family members who share DNA. Knowing about
genetic risks could affect your ability to get some kinds of insurance. 23andMe will not share your personal information
with an insurance company without your explicit consent.
You can choose to exclude the following reports individually from your account before your results
are returned to you:
Late-Onset Alzheimer’s Disease
Parkinson’s Disease
Additional relevant information about these reports will be provided when you go through the process of setting
your report preferences, after registering your kit.
What to know about our Genetic Health Risk reports
What to know about our Genetic Health Risk reports
What to know about: Alpha-1 Antitrypsin Deficiencyand our test
Alpha-1 antitrypsin deficiency (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 enzyme. 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?
We test 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 for 409 samples. 409 out of 409 genotype results were correct. While unlikely, this test may provide false positive or false negative results.
What to know about: Hereditary Thrombophiliaand 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
Harmful blood clots are also called venous thromboembolism (VTE), deep vein thromboses (DVT), or pulmonary embolism (PE).
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 situations 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?
We test 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. However, 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 for 404 samples. 404 out of 404 genotype results were correct. While unlikely, this test may provide false positive or false negative results.
What to know about: Late-Onset Alzheimer's Diseaseand 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
When symptoms develop
Late-onset Alzheimer’s disease develops after 65 years of age.
How it's treated
There is currently no known cure for Alzheimer’s disease. Medication may be used to delay or ease symptoms.
What do we test?
We test for the ε4 variant in the APOE gene associated with an increased risk of developing late-onset 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 for 544 samples. 543 out of 544 genotype results were correct. While unlikely, this test may provide false positive or false negative results.
What to know about: Parkinson's Diseaseand 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 for 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. 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?
We test 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 for 187 samples. 187 out of 187 genotype results were correct. While unlikely, this test may provide false positive or false negative results.
The following information applies to Carrier Status reports only.
What you should know
FDA Information
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.
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/).
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 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/).
This may be especially useful if you are of mixed ethnicity.
Consider sharing your results with relatives.
Your information – as well as knowing their own carrier
status – may be useful to them.
What to know about our Carrier Status Tests
What to know about our Carrier Status Tests
Select a Condition
ARSACS
Agenesis of the Corpus Callosum with Peripheral Neuropathy
Autosomal Recessive Polycystic Kidney Disease
Beta Thalassemia and Related Hemoglobinopathies
Bloom Syndrome
Canavan Disease
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
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 for 67 samples with known variant status. 67 out of 67 genotype results were correct. About 1 in 5,200 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Agenesis of the Corpus Callosum with Peripheral Neuropathyand 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 for 47 samples with known variant status. 47 out of 47 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Autosomal Recessive Polycystic Kidney Diseaseand 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. 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 for 149 samples with known variant status. 149 out of 149 genotype results were correct. About 1 in 35,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Beta Thalassemia and Related Hemoglobinopathiesand 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. Carrier screening for beta thalassemia and related hemoglobinopathies is recommended by ACOG for people of African, Southeast Asian, and Mediterranean 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 for 461 samples with known variant status. 461 out of 461 genotype results were correct. About 1 in 11,200 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Bloom Syndromeand 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. 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 for 70 samples with known variant status. 70 out of 70 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Canavan Diseaseand 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 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 for 212 samples with known variant status. 212 out of 212 genotype results were correct.
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. 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 for 100 samples with known variant status. 100 out of 100 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Cystic Fibrosisand 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?
28 variants in the CFTR gene. The American College of Medical Genetics (ACMG) recommends carrier testing for cystic fibrosis for people of all ethnicities considering having children. This test includes 21 of the 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 for 1,514 samples with known variant status. 1,514 out of 1,514 genotype results were correct. About 1 in 610 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: D-Bifunctional Protein Deficiencyand 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. 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 for 97 samples with known variant status. 97 out of 97 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Dihydrolipoamide Dehydrogenase Deficiencyand 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 for 50 samples with known variant status. 50 out of 50 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Familial Dysautonomiaand 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 for 59 samples with known variant status. 59 out of 59 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Fanconi Anemia Group Cand 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 for 145 samples with known variant status. 145 out of 145 genotype results were correct. About 1 in 43,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: GRACILE Syndromeand 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 for 46 samples with known variant status. 46 out of 46 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Gaucher Disease Type 1and 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. 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 for 438 samples with known variant status. 437 out of 438 genotype results were correct. The performance of this test may be affected by the presence of rare mutations, such as c.1265_1319del55.
What to know about: Glycogen Storage Disease Type Iaand 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 for 49 samples with known variant status. 49 out of 49 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Glycogen Storage Disease Type Iband 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. 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 for 85 samples with known variant status. 85 out of 85 genotype results were correct. About 1 in 56,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Hereditary Fructose Intoleranceand 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?
3 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 for 149 samples with known variant status. 149 out of 149 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Herlitz Junctional Epidermolysis Bullosa (LAMB3-related)and our test
LAMB3-related Junctional Epidermolysis Bullosa (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. 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 for 143 samples with known variant status. 143 out of 143 genotype results were correct. About 1 in 8,300 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Leigh Syndrome, French Canadian Typeand 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 for 45 samples with known variant status. 45 out of 45 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Limb-Girdle Muscular Dystrophy Type 2Dand 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. 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 for 49 samples with known variant status. 49 out of 49 genotype results were correct. About 1 in 3,300 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Limb-Girdle Muscular Dystrophy Type 2Eand 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. 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 for 28 samples with known variant status. 28 out of 28 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Limb-Girdle Muscular Dystrophy Type 2Iand 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. 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 for 51 samples with known variant status. 51 out of 51 genotype results were correct. About 1 in 4,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: MCAD Deficiencyand 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?
3 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 Northern European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from sequencing for 150 samples with known variant status. 150 out of 150 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Maple Syrup Urine Disease Type 1Band 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 for 92 samples with known variant status. 92 out of 92 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Mucolipidosis Type IVand 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 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 among 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 for 48 samples with known variant status. 48 out of 48 genotype results were correct.
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 for 48 samples with known variant status. 48 out of 48 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
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 for 148 samples with known variant status. 148 out of 148 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Niemann-Pick Disease Type Aand 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 for 146 samples with known variant status. 146 out of 146 genotype results were correct. About 1 in 6,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Nijmegen Breakage Syndromeand 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 for 47 samples with known variant status. 47 out of 47 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)and our test
DFNB1 is a type of inherited hearing loss that can be moderate to severe. Symptoms are typically noticed in newborns. A person must have two variants in the GJB2 gene in order to have GJB2-related DFNB1.
Typical signs and symptoms
Moderate 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. 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 for 103 samples with known variant status. 103 out of 103 genotype results were correct. About 1 in 13,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Pendred Syndrome and DFNB4 Hearing Lossand our test
Pendred syndrome and DFNB4 are genetic disorders 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. 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 for 292 samples with known variant status. 292 out of 292 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Phenylketonuria and Related Disordersand 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. 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 for 1126 samples with known variant status. 1126 out of 1126 genotype results were correct. About 1 in 550 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Primary Hyperoxaluria Type 2and 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. 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 for 49 samples with known variant status. 49 out of 49 genotype results were correct. About 1 in 1,300 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Rhizomelic Chondrodysplasia Punctata Type 1and 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. 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 for 49 samples with known variant status. 49 out of 49 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Salla Diseaseand our test
Salla disease is a rare genetic disorder 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 for 47 samples with known variant status. 47 out of 47 genotype results were correct. About 1 in 42,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Sickle Cell Anemiaand 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 ACOG for people of African 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 for 54 samples with known variant status. 54 out of 54 genotype results were correct. About 1 in 10,400 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Sjögren-Larsson Syndromeand 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 for 79 samples with known variant status. 79 out of 79 genotype results were correct. About 1 in 62,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Tay-Sachs Diseaseand 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. 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.
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 for 199 samples with known variant status. 199 out of 199 genotype results were correct. About 1 in 62,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Tyrosinemia Type Iand 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 for 196 samples with known variant status. 196 out of 196 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Usher Syndrome Type 1Fand 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 for 47 samples with known variant status. 47 out of 47 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
What to know about: Usher Syndrome Type 3Aand 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 for 49 samples with known variant status. 49 out of 49 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
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. 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 for 49 samples with known variant status. 49 out of 49 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
The Amish are a group of people residing mainly in the central regions of the United States.
Descended from Swiss and German ancestors, the group is defined by religious and cultural
practices, including strong church membership and limits on the use of technology.
Your DNA can tell you about your family history. Reports include: Ancestry
Composition, Haplogroups, Neanderthal Ancestry, Your DNA Family
Those who trace their roots to Jewish settlers in Central and Eastern Europe during the Middle
Ages.
North African Berbers are people of mixed Arab and Berber origin. They live in communities across the North African Maghreb region, which includes the countries of Tunisia, Morocco, Algeria, and Libya.
Test Examples
Relevant Ethnicities
Bloom Syndrome
Ashkenazi Jewish
Sickle Cell Anemia
African
Tay-Sachs Disease
Ashkenazi Jewish, Cajun
If you are starting a family, find out if you are a carrier for an inherited
condition. Example reports include: Cystic Fibrosis, Sickle Cell Anemia,
Hereditary Hearing Loss
Find and connect with relatives in the 23andMe database who share DNA with you.
Learn how your genetics can influence your risk for certain diseases.
Example reports include: Late-Onset Alzheimer's Disease, Hereditary Thrombophilia (harmful
blood clotting), Parkinson's Disease
Learn the origins of your maternal and paternal ancestors and where they lived thousands
of years ago.
Women can only trace their paternal haplogroup by connecting to a male relative - such as a father, brother, or
paternal male cousin. This is because the paternal haplogroup is traced through the Y chromosome, which women do
not inherit.
Explore what makes you unique, from food preferences to physical features.
Example reports include: Male Bald Spot, Sweet vs. Salty, Unibrow
Learn how your genes play a role in your well-being and lifestyle choices.
Example reports include: Deep Sleep, Lactose Intolerance, Genetic Weight
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