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Test Catalog
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
OHPG - Overview: 17-Hydroxyprogesterone, Serum
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...
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
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.
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...
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...
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...
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...
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)
DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification
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...
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...
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
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
Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool
Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
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
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
MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma
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...
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
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...
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
MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine
Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections
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.
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.
NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
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...
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
ACASM - Overview: Pernicious Anemia Cascade, Serum
Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy
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...
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...
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...
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...
INTAD - Overview: Adalimumab Panel, Interpretation
Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels
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,...
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
AGABS - Overview: Alpha-Galactosidase, Blood Spot
Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...
MAFP1 - Overview: Alpha-Fetoprotein (AFP), Single Marker Screen, Maternal, Serum
Prenatal screening for open neural tube defect
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
DENVP - Overview: Dengue Virus Antibody/Antigen Panel, Serum
Aiding in the diagnosis of dengue virus infection by detection of IgM and IgG antibodies and the nonstructural protein 1 (NS1)
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
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...
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
CSFP - Overview: Carrier Screen, Focused Panel, Varies
Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.
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...
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mc1235-69-lead-and-heavy-metals-reporting-spanish.pdf
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contributes to landmark discovery of Beethoven's hair lead concentration - Insights
Clinical Chemistry, authenticated locks of hair from the composer Ludwig van Beethoven have revealed high lead concentrations after being analyzed at Mayo Clinic. Paul Jannetto, Ph.D., director of the Metals Laboratory...on two independent...
MCL Lead and Heavy Metals Reporting MC123569
MCL Lead Heavy Metals Reporting Complete print Lead Heavy Metals Reporting Reset Form information Lead...
Leading Through Uncertainty - Insights
in the Department of Laboratory Medicine and Pathology at Mayo Clinic, to talk about working and leading through uncertainty....
Long and Winding Road Leads to Mayo-and a "Miracle" - Insights
steering wheel. Odd, he thought. Unusual. And looking back, the first sign of a problem that would lead Frank and his wife, Christine, from their home in Fort Myers, Florida, to Mayo Clinic's campus in...