Table 1.

Recommended Counseling/Testing by Ethnicity

Ethnicity (of at least one member of the couple)	Disorders with recommended counseling/testing	Type of test
Caucasian	Cystic fibrosis	DNA testing of CFTR gene11
European	Cystic fibrosis	DNA testing of CFTR gene11
Ashkenazi Jewish	Canavan disease, cystic fibrosis, familial dysautonomia, Tay-Sachs, Gaucher, Niemann-Pick Type A, Bloom syndrome Mucolipidosis IV, Fanconi syndrome	Canavan disease: DNA testing of ASPA gene13,15,19 Cystic fibrosis: DNA testing of CFTR gene11,13,19 Familial Dysautonomia DNA testing of IKBKAP gene13,15,19 Tay-Sachs: Enzyme assay for hexosaminidase-A level or DNA testing of HEXA gene13,15,19 Gaucher: DNA testing of GBA gene Niemann-Pick Type A: DNA testing of SMPD1 gene13,15,19 Bloom syndrome: DNA testing of BLM gene13,19 Mucolipidosis IV: DNA testing of MCOLN1 gene13,19 Fanconi syndrome: DNA testing of FANCC gene13,19
French-Canadian	Tay-Sachs	Enzyme assay for hexosaminidase-A level or DNA testing of HEXA gene12,14,19
Cajun	Tay-Sachs	Enzyme assay for hexosaminidase-A level or DNA testing of HEXA gene12,14,19
African	Sickle cell disease/trait, thalassemia	Complete blood count(CBC) with red blood cell indices (RBC), iron indices, hemoglobin electrophoresis16,17,18
Mediterannean	Thalassemia	CBC with RBC indices and iron indices; hemoglobin electrophoresis if anemia and normal iron indices16,17,18
Asian	Thalassemia	CBC with RBC indices and iron indices; hemoglobin electrophoresis if anemia and normal iron indices; DNA testing of alpha-globin genes for alpha thalassemia if Southeast Asian with low MCV anemia but normal iron studies16,17,18