Tests by Specialty- Metabolic Disorders

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.

Disease Test Genes
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, SLO Smith-Lemli-Opitz Syndrome (SLOS) DHCR7