Test Catalog Search Results
AGAW - Overview: Alpha-Galactosidase, Leukocytes
Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...
I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.
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
AAPD - Overview: Amino Acids, Quantitative, Random, Urine
Evaluating patients with possible inborn errors of metabolism using random urine specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional...
ARSAB - Overview: Arylsulfatase A, Blood Spot
Second-tier newborn screening test for metachromatic leukodystrophy (MLD) when sulfatides are elevated Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.
APOEG - Overview: Apolipoprotein E Genotyping, Blood
Determining the specific apolipoprotein E (APOE) genotypes in individuals with type III hyperlipoproteinemia Determining the specific APOE genotypes that may increase risk for amyloid related imaging abnormalities in individuals being...
AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid
Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...
WBSEQ - Overview: Beta Globin Gene Sequencing, Varies
Diagnosis of beta thalassemia intermedia or major Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare...
CFMP - Overview: Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
Confirmation of a clinical diagnosis of cystic fibrosis Reproductive risk refinement via carrier screening for individuals in the general population Reproductive risk refinement via carrier screening for individuals with a family history...
INHAB - Overview: Inhibin A and B, Tumor Marker, Serum
Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin A or overexpress inhibin B
Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool
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
Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability
MGMTD - Overview: MGMT Promoter Methylation Analysis, Tumor
Prognostication of newly diagnosed patients with glioblastoma Identification of newly diagnosed glioblastoma patients that may derive benefit from alkylating chemotherapy (ie, temozolomide) Therapy selection for newly diagnosed...
GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies
Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...
EFPO - Overview: Electrolyte and Osmolality Panel, Feces
Workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds water to stool to simulate diarrhea)
TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma
OXYBS - Overview: Oxysterols, Blood Spot
Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.
17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum
An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...
PQNRU - Overview: Porphyrins, Quantitative, Random, Urine
Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...
ACASM - Overview: Pernicious Anemia Cascade, Serum
Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma
RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood
Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...
SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum
Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...
RAVU - Overview: Ravulizumab, Serum
Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission states Monitoring patients who need to be above a certain...
NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...
Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma
DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification
POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.
HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies
Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele
AAQP - Overview: Amino Acids, Quantitative, Plasma
Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...
INTAD - Overview: Adalimumab Panel, Interpretation
Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels
CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH
CORTC - Overview: Corticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...
AMYR - Overview: Beta-Amyloid Ratio (1-42/1-40), Spinal Fluid
Assisting in the evaluation of adult patients, aged 55 years and older, presenting with cognitive impairment and are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening or...
MAFP1 - Overview: Alpha-Fetoprotein (AFP), Single Marker Screen, Maternal, Serum
Prenatal screening for open neural tube defect
RBART - Overview: Bartter Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome
ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer
DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum
Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...
GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified
HITIG - Overview: Heparin-PF4 IgG Antibody, Serum
Detection of IgG antibodies directed against heparin/platelet factor 4 complexes that are implicated in the pathogenesis of immune-mediated type II heparin-induced thrombocytopenia, spontaneous heparin platelet-factor 4 IgG antibody, and...
DGGL - Overview: Gliadin (Deamidated) Antibody, IgG, Serum
Assessment of deaminated gliadin IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...
DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum
Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...
HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification
Establishing a diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM) Helping distinguish LPL/WM low-grade B-cell lymphoma from other subtypes Aiding in the prognosis and clinical management of lymphoplasmacytic...
MCLBP - Overview: MayoComplete Liquid Biopsy Panel, Next-Generation Sequencing, Cell-Free DNA
As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors As an alternative to invasive...