CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...

CORTC - Overview: Corticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...

NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

RENCP - Overview: Hereditary Renal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary renal cancer syndrome Establishing a diagnosis of a hereditary renal cancer syndrome allowing for targeted cancer surveillance based on associated risks...

IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members

HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum

Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...

LNBAB - Overview: Lyme Central Nervous System Infection IgG with Antibody Index Reflex, Serum and Spinal Fluid

Aiding in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

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

MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum

Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...