NCLBS - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 This test is not useful for carrier detection.

ML1HM - Overview: MLH1 Hypermethylation Analysis, Tumor

An adjunct to TMSI / Microsatellite Instability, Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor when colon or endometrial tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...

TYRBS - Overview: Tyrosinemia Follow Up Panel, Blood Spot

Monitoring of individuals with tyrosinemia type 1 (HT-1) Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate...

AVWPI - Overview: von Willebrand Disease Profile Technical Interpretation

Technical interpretation of the von Willebrand factor profile test Detection of deficiency or abnormality of von Willebrand factor and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1...

THYRO - Overview: Thyrotropin Receptor Antibody, Serum

Recommended first-line test for detection of thyrotropin receptor antibodies Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical findings and/or contraindicated (eg, pregnant or breast-feeding) or...

CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies

Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...

ALADW - Overview: Aminolevulinic Acid Dehydratase, Washed Erythrocytes

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens This test is not useful for detecting lead intoxication.

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease

BETV2 - Overview: BET v2 (Profilin), IgE, Serum

Evaluation of patients suspected birch pollen allergy Evaluation of patients with suspected peanut allergy Evaluation of patients with oral allergy syndrome to other pollens or plant-based foods Testing for IgE antibodies is not useful...

CJDEI - Overview: Creutzfeldt-Jakob Disease Evaluation Interpretation, Spinal Fluid

Interpretation of the Creutzfeldt-Jakob Disease Evaluation