Test Catalog Search Results
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
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...
NONCR - Overview: Neuro-Oncology Gene Panel, Rearrangements Only, Tumor
Identifying rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying rearrangements within genes known to be associated with response or resistance to specific...
MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue
Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation
BRMLH - Overview: MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
PNBX - Overview: Peripheral Nerve Pathology Consultation
Evaluating diseases of the nerve and disorders that affect nerve function
TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification
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...
SS18F - Overview: Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue
Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation
UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies
Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome
2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine
Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine
XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies
Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene
ANPAT - Overview: Anatomic Pathology Consultation, Wet Tissue
Obtaining a rapid, expert opinion on unprocessed specimens (lung tissue for immunofluorescence, cardiac biopsies, enucleated eye specimens, iris, conjunctiva, cornea, and other small eye biopsies) referred by a pathologist This test is not...
ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular
Aids in the diagnosis of amebic keratitis in conjunction with clinical findings
CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...
CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...
RLTE4 - Overview: Leukotriene E4, Random, Urine
Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using random urine collections
LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies
Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...
HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies
Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...
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...
Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help guide possible therapeutic approaches
NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies
Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
RPCWT - Overview: Renal Pathology Consultation, Wet Tissue
Evaluating and managing patients with kidney disease Following the progression of known kidney disease or response to therapy Determining the cause of dysfunction in the transplanted kidney (allograft)
UNIPD - Overview: Uniparental Disomy, Varies
Evaluation of patients presenting with mosaicism, confined placental mosaicism, or Robertsonian translocations Evaluation of patients presenting with features of disorders known to be associated with uniparental disomy (eg, Russell-Silver...
CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine
Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...
INTAD - Overview: Adalimumab Panel, Interpretation
Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels
ATPCO - Overview: Anal ThinPrep Cytology with Human Papillomavirus (HPV) Co-Test, Varies
Detection of malignant and premalignant changes Detection of high-risk (HR) genotypes associated with the development of anal cancer Individual genotyping of human papillomavirus (HPV)-16 and HPV-18, if present May aid in triaging men...
CHRAF - Overview: Chromosome Analysis, Amniotic Fluid
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements
CATP - Overview: Catecholamine Fractionation, Free, Plasma
Diagnosing pheochromocytoma and paraganglioma, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis follow-up of patients with neuroblastoma and related tumors, as an auxiliary test to urine...
CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...
SPBX - Overview: Epidermal Nerve Fiber Density Consultation, Varies
Investigating polyneuropathies
Rapid identification to the species level and susceptibility testing for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
CATPA - Overview: Catecholamine, Endocrine Study, Plasma
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in both supine and standing positions, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of...
HIVSP - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Plasma
Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.
TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine
Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
NGTCL - Overview: MayoComplete T-Cell Lymphoma, Next-Generation Sequencing, Varies
Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with T-cell lymphomas
NGCLN - Overview: MayoComplete Chronic Lymphoid Neoplasms, Next-Generation Sequencing, Varies
Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with chronic or low-grade B-cell lymphoid neoplasms
MPSWB - Overview: Mucopolysaccharidosis, Blood
Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens
NGHIS - Overview: MayoComplete Histiocytic Neoplasms, Next-Generation Sequencing, Varies
Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with histiocytic neoplasms
NGPCM - Overview: MayoComplete Plasma Cell Myeloma, Next-Generation Sequencing, Varies
Evaluating multiple myeloma at the time of diagnosis and at disease relapse or when changing clinical management to provide prognostic information and determine potential therapeutic implications
MTBRP - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Varies
Rapid detection of Mycobacterium tuberculosis complex DNA (preferred method) Detection of M tuberculosis, when used in conjunction with mycobacterial culture This test does not assess M tuberculosis rifampin resistance. This test...
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using a fixed cell pellet derived from bone marrow Identifying prognostic markers based on the abnormalities found This test should...
NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
HVPRS - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Serum
Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.
HCVQG - Overview: Hepatitis C Virus (HCV) RNA Quantification with Reflex to HCV Genotype, Serum
Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection and determining HCV genotype (1 to 5) to guide...