CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...

DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...

NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes

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

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

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

HBGSN - Overview: Hepatitis B Virus Surface Antigen Screen, Serum

Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for diagnosis of hepatitis...

LRCCZ - Overview: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...

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

HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies

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

HCVDX - Overview: Hepatitis C Virus (HCV) Antibody with Reflex to HCV RNA, PCR, Symptomatic, Serum

Diagnosis of recent or chronic hepatitis C virus (HCV) infection in symptomatic patients This test should not be used as a screening or confirmatory test for hepatitis C in blood or human cells/tissue donors. This test profile is not...

HITIG - Overview: Heparin-PF4 IgG Antibody, Serum

Detection of IgG antibodies directed against heparin/platelet factor 4 complexes that are implicated in the pathogenesis of immune-mediated type II heparin-induced thrombocytopenia, spontaneous heparin platelet-factor 4 IgG antibody, and...