Metabolic Disorders

Inherited metabolic disorders are genetic conditions that result in metabolism problems. Metabolism refers to all the chemical reactions that occur in the body to convert or use energy. In most people with inherited metabolic disorders, a single enzyme is either not produced or is produced in a form that doesn't work. Depending on that enzyme's normal function, its absence or inability to function means that toxic chemicals may build up, or an essential product may not be made. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.

Genetic testing for inherited metabolic disorders is available through the Northwell Health Genomics Alliance. Below is a list of commonly ordered genetic tests for inherited metabolic disorders are listed.

Commonly Ordered Tests

• GD334 Carnitine Palmitoyltransferase Deficiency Type II, CPT2 Sequencing
• GD270 Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, ACADVL Sequencing
• GD2321 Fabry disease, GLA Sequencing
• GD273 Phenylalanine Hydroxylase, PAH Sequencing
• GD399 Glutaric Aciduria Type I, GCDH Sequencing
• GD365 Primary/Systemic Carnitine Deficiency, SLC22A5 Sequencing

See All Tests for Metabolic Disorders