SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...

BVRNA - Overview: Bacterial Vaginosis, Nucleic Acid Amplification, Vaginal

Aid for diagnosis of bacterial vaginosis This test is not intended for use in medico-legal applications.

B2MC - Overview: Beta-2-Microglobulin (Beta-2-M), Spinal Fluid

Evaluation of central nervous system inflammation and B-cell proliferative diseases

B2M - Overview: Beta-2-Microglobulin, Serum

Prognosis assessment of multiple myeloma Evaluation of renal tubular disorders

BILIT - Overview: Bilirubin, Total, Serum

Assessing liver function Evaluating a wide range of diseases affecting the production, uptake, storage, metabolism, or excretion of bilirubin Monitoring the efficacy of neonatal phototherapy

CARNU - Overview: Carnitine, Random, Urine

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders Monitoring carnitine treatment

CDUCR - Overview: Cadmium/Creatinine Ratio, Random, Urine

Detecting exposure to cadmium, a toxic heavy metal, using random urine specimens