PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms

FLUPV - Overview: Lupus Anticoagulant Evaluation with Reflex

Lupus Anticoagulant Evaluation with Reflex

CHRAF - Overview: Chromosome Analysis, Amniotic Fluid

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements

MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies

Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified

XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene

FHZCP - Overview: Hazelnut Component Panel

Hazelnut Component Panel

FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue

Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain

MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

ANA2 - Overview: Antinuclear Antibodies (ANA), Serum

Evaluating patients at-risk for antinuclear antibodies-associated systemic autoimmune rheumatic disease particularly systemic lupus erythematosus, Sjogren syndrome, and mixed connective tissue disease