LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

HEMP - Overview: Hereditary Erythrocytosis Mutations, Whole Blood

Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit This test is not intended for prenatal...

CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies

Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...

FBIOT - Overview: Vitamin B7, H (Biotin)

Vitamin B7, H (Biotin)

FNEU - Overview: Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

AMOBS - Overview: Amobarbital, Serum

Monitoring amobarbital therapy

CL - Overview: Chloride, Serum

Evaluation of water, electrolyte, and acid-base status

MDNS - Overview: Methadone and Metabolites, Serum

Compliance monitoring of methadone Assessment of methadone toxicity

BUTAS - Overview: Butalbital, Serum

Monitoring butalbital therapy