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
African American
Asian
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.- Abetalipoproteinemia
- Alport Syndrome
- Arthrogryposis Multiplex Congenita
- Bardet-Biedl Syndrome
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase II Deficiency
- Congenital Amegakaryocytic Thrombocytopenia
- Congenital Disorder of Glycosylation Ia
- Dyskeratosis Congenita
- Ehlers-Danlos VIIC
- Familial Dysautonomia
- Familial Hyperinsulinism
- Fanconi Anemia
- Galactosemia (also more frequent among people of Irish descent)
- 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
- 3-Phospoglycerate Dehydrogenase Deficiency
- Polycystic Kidney Disease
- Retinitis Pigmentosa 59
- Smith-Limli-Opitz Syndrome
- Tay-Sachs Disease (also more frequent among French Canadians, Cajuns, and people of Irish/British descent)
- Tyrosinemia I (also more frequent in Norwegians, Finnish, French Canadians)
- Usher Syndrome
- Walker-Warburg Syndrome
- Wilson Disease
- Zellweger Syndrome
