Ambry Genetics has cataloged all of our tests and organized them below by specialty. The comprehensive listing of tests by specialty is organized in alphabetical order.
|Familial Mediterranean Fever||Familial Mediterranean Fever||MEFV|
|Gaucher Disease||Gaucher Disease||GBA|
|Hunter Syndrome, Mucopolysaccharidosis Type II (MPSII)||Hunter Syndrome||IDS|
|Maturity-Onset Diabetes of the Young (MODY), Monogenic Type II Diabetes, Autosomal Dominant Type II Diabetes||Maturity-Onset Diabetes of the Young (MODY) Testing||HNF1B, HNF4A, PDX1, HNF1A, GCK|
|Smith-Lemli-Opitz Syndrome||Smith-Lemli-Opitz Syndrome (SLOS)||DHCR7|