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
Canavan Disease, Aminoacylase 2 deficiency, ASPA deficiency, Van Bogaert-Bertrand syndrome Canavan Disease Testing ASPA
Familial Mediterranean Fever Familial Mediterranean Fever MEFV
Gaucher disease, Glucocerebrosidase deficiency, Glucosylceramidase deficiency 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
Niemann-Pick disease type C, Juvenile Niemann-Pick disease Niemann-Pick Disease Type C
Ornithine transcarbamylase (OTC) deficiency ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC
PLP1-Related Disorders, Pelizaeus-Merzbacher disease (PMD), Sudanophilic leukodystrophy, Spastic paralegia 2 (SPG2) PLP1-Related Disorders PLP1
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome (SLOS) DHCR7
Tay-Sachs Disease Tay-Sachs Disease HEXA