Test Catalog Search Results

HIF2A - Overview: Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood

Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII

SEQB - Overview: Sequential Maternal Screening, Part 2, Serum

Prenatal screening for Down syndrome, neural tube defects, and trisomy 18 Identifying abnormal levels of alpha-fetoprotein in the second trimester

DHR - Overview: Dihydrorhodamine Flow Cytometric Test, Blood

Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, Rac2 deficiency, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function...

HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin Predictive testing of individuals who have a...

SEBV - Overview: Epstein-Barr Virus (EBV) Antibody Profile, Serum

Diagnosing infectious mononucleosis when a mononucleosis screening procedure is negative and infectious mononucleosis or a complication of Epstein-Barr virus infection is suspected This assay is not intended for viral isolation or...