MSD Manual

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Who Should Consider Genetic Screening?

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

* This list is not comprehensive. Screening for other disorders can be requested.

† 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.