HCVSP - Overview: Hepatitis C Virus (HCV) Antibody Screen Prenatal, Serum

Screening of pregnant women for hepatitis C virus (HCV) infection in primary care settings, with or without risk factors for hepatitis C This test should not be used as a screening test for hepatitis C in blood or human cells/tissue...

CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies

Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

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

HCSRN - Overview: Hepatitis C Virus (HCV) Antibody Screen with Reflex to HCV RNA, PCR, Asymptomatic, Serum

Screening for hepatitis C virus (HCV) infection in primary care settings in high-risk persons with a current or previous history of illicit injection drug use or a history of receiving a blood transfusion prior to 1992 Screening for...

NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes

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

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...

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

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...

MPSWB - Overview: Mucopolysaccharidosis, Blood

Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens