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Test Catalog
DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies
Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...
BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRAF and KIT genes that predict response to therapy
BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP (poly [ADP-ribose] polymerase) inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation...
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...
AGAS - Overview: Alpha-Galactosidase, Serum
Diagnosis of Fabry disease in male patients Preferred screening test (serum) for Fabry disease This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.
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...
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...
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.
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...
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
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
Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool
NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
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.
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...
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...
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...
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)
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
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
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
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.
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
ACASM - Overview: Pernicious Anemia Cascade, Serum
Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy
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...
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
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...
Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability
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
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...
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...
DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification
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...
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
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
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...
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...
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...
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...
OLIGU - Overview: Oligosaccharide Screen, Random, Urine
Screening for selected oligosaccharidosis
NONCM - Overview: Neuro-Oncology Gene Panel, Mutations Only, Tumor
Identifying mutations that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying specific mutations within genes known to be associated with response or resistance to specific...
QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood
Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...
PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine
Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...
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)
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mc1235-69-lead-and-heavy-metals-reporting-spanish.pdf
Foundation for Medical Education and Research MC1235-69SPrev0823 Informes sobre plomo y metales pesados Lead and Heavy Metals Reporting (Spanish) Page 1 of 2 La siguiente información debe ser proporcionada para...
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...