Group | Disorder* | Genetic Carrier Screening Tests |
---|---|---|
All | DNA analysis of a sample of blood or of cells from the inside of the cheek | |
Ashkenazi Jewish† | 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 | ||
African | Blood tests to check for abnormal hemoglobin | |
Cajun | 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 | 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 Asian, Cambodian, Chinese, Filipino, Laotian, 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%) Jewish people are Ashkenazi. Thus, Jewish people who do not know whether they are Ashkenazi should be screened. Some experts also recommend screening for other disorders, such as Gaucher disease Gaucher Disease Gaucher disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused by a buildup of glucocerebrosides in tissues. Children who have the infantile form usually die... read more , Niemann-Pick disease type A Niemann-Pick Disease Niemann-Pick disease is type of lysosomal storage disorder. Types A and B are sphingolipidoses and are caused by a buildup of sphingomyelin in the tissues. Type C is a lipidosis that is caused... read more , and Fanconi anemia (syndrome) group C Fanconi Syndrome Fanconi syndrome is a rare disorder of kidney tubule function that results in excess amounts of glucose, bicarbonate, phosphates (phosphorus salts), uric acid, potassium, and certain amino acids... read more . |