Dictionary of Genetic Disorders

Depending on your ancestry and family medical history, you may want to consider testing for one or more of the genetic disorders listed below.

While these diseases occur in all ethnic groups, some of them are far more common in certain populations than in others.

For and 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

African American

• Beta-Thalassemia
• Sickle Cell Anemia

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.

• Bloom Syndrome
• Canavan Disease
• Familial Dysautonomia
• Familial Hyperinsulinism
• Fanconi Anemia
• Gaucher Disease (Type I)
• Glycogen Storage Disease 1a
• Joubert Syndrome 2
• Lipoamide Dehydrogenase Deficiency (E3)
• Maple Syrup Urine Disease
• Mucolipidosis Type IV
• Nemaline Myopathy
• Niemann-Pick Type A
• Tay-Sachs Disease (also more frequent among French Canadians, Cajuns, and people of Irish/British descent)
• Usher Syndrome
• Walker-Warburg Syndrome

Hispanic, Southern European, Middle Eastern, Indian, Sephardi Jewish

• Beta-Thalassemia