DNA Genetic Testing & Analysis – 23andMe

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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

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:

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.

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.

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DNA Genetic Testing & Analysis - 23andMe