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 |
|---|---|---|
| Fabry Disease | Fabry Disease | GLA |
| Gaucher Disease | Gaucher Disease | GBA |
| Glutaric Acidemia Type 1 | Glutaric Acidemia Type 1 | GCDH |
| Glycogen Storage Disease Type IA, Glycogen Storage Disease Type IB | Glycogen Storage Disease Types 1A & 1B | SLC37A4 |
| Hunter Syndrome, Mucopolysaccharidosis Type II (MPSII) | Hunter Syndrome | IDS |
| Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome | Hurler Syndrome | IDUA |
| Mucolipidosis Type IV (Mucolipidosis IV, ML4) | Mucolipidosis Type IV | MCOLN1 |
| Niemann-Pick Disease Type C | Niemann-Pick Disease Type C | NPC1, NPC2 |
| Niemann-Pick Disease Types A & B, Acid Sphingomyelinase Deficiency | Niemann-Pick Disease Types A & B | SMPD1 |
| Phenylketonuria (PKU), Hyperphenylalaninemia (HPA) | Phenylketonuria-PKU | PAH |
| Smith-Lemli-Opitz Syndrome, SLO | Smith-Lemli-Opitz Syndrome (SLOS) | DHCR7 |