When you or a loved one is faced with a genetic disease it can be overwhelming, confusing and scary.

Genetic disorders run in families. While these diseases occur in all ethnic groups, some of them are far more common in certain populations than in others. To find out more information on a specific disease, including carrier frequencies, click on its name below.

All ethnic groups

Cystic Fibrosis
Fragile X Syndrome
Spinal Muscular Atrophy
Fabry Disease
Prader-Willi Syndrome
WHIM Syndrome

African American

Sickle Cell Anemia
Beta-Thalassemia

Asian

Alpha-Thalassemia
Beta-Thalassemia

Ashkenazi Jewish

The Ashkenazi Jewish Genetic Panel (AJGP) screens for all these diseases, plus Cystic Fibrosis. The chance that someone of 100% Ashkenazi descent will be a carrier of one of the diseases in the panel is 1 in 5.

Tay-Sachs Disease (also more frequent among French Canadians, Cajuns, and people of Irish/British descent)
Canavan Disease
Familial Dysautonomia
Gaucher Disease (Type I)
Glycogen Storage Disease 1a
Bloom Syndrome
Lipoamide Dehydrogenase Deficiency (E3)
Maple Syrup Urine Disease
Niemann-Pick Type A
Mucolipidosis Type IV
Fanconi Anemia
Nemaline Myopathy
Familial Hyperinsulinism
Usher Syndrome

Photo by Andre Helmstetter