Who Should Consider Genetic Screening?
Group |
Disorder* |
Screening Tests |
|
All |
DNA analysis of a sample of blood or of cells from the inside of the cheek |
|
|
Ashkenazi Jews† |
Canavan disease |
DNA analysis of a sample of blood or of cells from the inside of the cheek |
|
|
Familial dysautonomia (hereditary dysfunction of the autonomic nervous system) |
DNA analysis of a sample of blood or of cells from the inside of the cheek |
|
|
Blood tests to measure the enzyme that is deficient in this disorder (hexosaminidase A) DNA analysis |
|
|
Blacks |
Blood tests to check for abnormal hemoglobin DNA analysis |
|
|
Cajuns |
Tay-Sachs disease |
Blood tests to measure the enzyme that is deficient in this disorder (hexosaminidase A) DNA analysis |
|
Mediterranean, Southeast Asian, Asian Indian, and Middle Eastern people |
Blood tests to measure the average size of red blood cells (mean corpuscular volume) If the average size is small, blood tests to check for abnormal hemoglobin DNA analysis |
|
|
Southeast Asians, Cambodians, Chinese, Filipinos, Laotians, and Vietnamese |
Blood tests to measure the average size of red blood cells If average size is small, blood tests to check for abnormal hemoglobin DNA analysis |
|
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* This list is not comprehensive. Screening for other disorders can be requested. |
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† Most (90%) Jews are Ashkenazi. Thus, Jews who do not know whether they are Ashkenazi should be screened. Some experts also recommend screening for other disorders, such as Gaucher disease, Niemann-Pick disease type A, and Fanconi anemia (syndrome) group C. |
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