GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...

WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital

ARSBB - Overview: Arylsulfatase B, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI

CXLPL - Overview: CXCR4 Mutation Analysis, Somatic, Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, Varies

Aiding in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

ASUCR - Overview: Arsenic/Creatinine, Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic exposure using random urine specimens

A1ALC - Overview: Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum

Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency

ASU24 - Overview: Arsenic with Reflex, 24 Hour, Urine

Preferred screening test for detection of arsenic exposure using 24-hour urine specimens

CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue

Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...

BGA - Overview: Beta-Galactosidase, Leukocytes

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.