Recommended counseling and testing for Special Populations
Ethnicity (patient and/or partner) Disorder and Tests
Ashkenazi Jewish Canavan disease
DNA test - ASPA gene
Familial dysautonomia
DNA test - IKBKAP gene
Tay-Sachs disease
DNA test - HEXA gene or Enzyme test - hexosaminidase A level
Gaucher's disease
DNA - GBA gene
Neimann-Pick disease, Type A
DNA test - SMPD1 gene
Bloom Syndrome
DNA test - BLM gene
Mucolipidosis IV
DNA test - MCOLN1 gene
Fanconi anemia Group C
DNA test - FANCC gene

Source: Solomon, et, al., "The Clinical content of preconception care:genetics and genomics." AJOG, Supplement to December, 2008. S340-S344