Test Catalog Search Results

LGCMP - Overview: Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...

GFATC - Overview: Glial Fibrillary Acidic Protein Alpha Subunit Antibody, Immunofluorescence Titer Assay, Spinal Fluid

Reporting an end titer result in spinal fluid specimens Distinguishing, in spinal fluid, autoimmune GFAP astrocytopathy from infectious meningoencephalitis and idiopathic inflammatory central nervous system (CNS) disorders such as multiple...

HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot

Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen

9INHE - Overview: Factor IX Inhibitor Evaluation, Plasma

Detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a...

EHBAP - Overview: Ehrlichia/Babesia Antibody Panel, Immunofluorescence, Serum

As an adjunct in the diagnosis of infection with Anaplasma phagocytophilum, Ehrlichia chaffeensis, or Babesia microti Seroepidemiological surveys of the prevalence of the infection in certain populations

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...

CHF8 - Overview: Chromogenic Factor VIII Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia A using a 2-stage assay, especially when the 1-stage assay result was normal