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