Table: Who Should Consider Genetic Screening? - Merck Manuals Consumer Version

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Who Should Consider Genetic Screening?

Who Should Consider Genetic Screening?

Group	Disorder*	Screening Tests
All	Cystic fibrosis Cystic Fibrosis (CF) Cystic fibrosis is a hereditary disease that causes certain glands to produce abnormally thick secretions, resulting in tissue and organ damage, especially in the lungs and the digestive tract... read more	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
	Tay-Sachs disease Tay-Sachs Disease and Sandhoff Disease Tay-Sachs disease and Sandhoff disease are types of lysosomal storage disorder called sphingolipidoses and are caused by a buildup of gangliosides in the tissues in the brain. These diseases... read more	Blood tests to measure the enzyme that is deficient in this disorder (hexosaminidase A) DNA analysis
Blacks	Sickle cell anemia Sickle Cell Disease Sickle cell disease is an inherited genetic abnormality of hemoglobin (the oxygen-carrying protein found in red blood cells) characterized by sickle (crescent)-shaped red blood cells and chronic... read more	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	Beta-thalassemia Thalassemias Thalassemias are a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin (the oxygen-carrying protein found... read more	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	Alpha-thalassemia Thalassemias Thalassemias are a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin (the oxygen-carrying protein found... read more	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 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 .