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

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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.

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/).

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.

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.

What to know about our Genetic Health Risk reports

What to know about our Genetic Health Risk reports

Select a Condition

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.

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.

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 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.

What to know about our Carrier Status Tests

What to know about our Carrier Status Tests

Select a Condition

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:
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.