CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...
WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
TRECS - Overview: T-Cell Receptor Excision Circles Analysis, Blood
Measuring T-cell output or reconstitution (thymopoiesis) following hematopoietic cell transplantation or highly active antiretroviral therapy Evaluating thymic function in patients with cellular or combined inborn errors of immunity...
XCP - Overview: Hereditary Expanded Cancer Panel, Varies
Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...
FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies
Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease
PHEPU - Overview: Previous Viral Hepatitis (Unknown Type), Serum
Determining if an individual has been infected following exposure to an unknown type of viral hepatitis virus Obtaining baseline serologic markers of an individual exposed to a source with an unknown type of hepatitis Determining...
TTBS - Overview: Testosterone, Total and Bioavailable, Serum
Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
BLWX - Overview: Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components
POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
PMS2 - Overview: PMS2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...
HBAGQ - Overview: Hepatitis B Virus Surface Antigen, Quantitative, Serum
Monitoring of progression of chronic hepatitis B in individuals who are confirmed to be positive for hepatitis B surface antigen Monitoring of response to antiviral therapy in individuals who have chronic hepatitis B but are negative for...
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue
Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation
TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood
Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
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
MLH1 - Overview: MLH1 Immunostain, Technical Component Only
Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...
MSH2 - Overview: MSH2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MCMRU - Overview: Mast Cell Mediators, Random, Urine
Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections
PBC2 - Overview: SP100 and GP210 Antibodies, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of Sp100 and gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
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
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...
BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies
Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...
BTWGS - Overview: Bacterial Typing, Whole Genome Sequencing, Varies
Aiding in the investigation of a potential outbreak by a single bacterial species May assist in identification of recurrent infection in an individual patient
HIAAP - Overview: 5-Hydroxyindoleacetic Acid, Plasma
Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using a plasma specimen
VANPA - Overview: Vancomycin, Peak, Serum
Monitoring peak levels in selected patients receiving vancomycin therapy
THEO - Overview: Theophylline, Serum
Assessing and adjusting theophylline dosage for optimal therapeutic level Assessing theophylline toxicity
VITA - Overview: Vitamin A, Serum
Diagnosing vitamin A deficiency and toxicity Monitoring vitamin A therapy
VALPA - Overview: Valproic Acid, Total, Serum
Monitoring total valproic acid in therapy Assessing compliance Evaluating potential toxicity
HGUOE - Overview: Mercury Occupational Exposure, Random, Urine
Detecting mercury toxicity due to occupational exposure
UPHB - Overview: pH, Body Fluid
Indicating the presence of infections or fistulas Verifying the effectiveness of treatment to reduce stomach pH Diagnosing disease states characterized by abnormal stomach acidity This test is not appropriate for measurement of...
Reporting an end titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...
UPII - Overview: Uroplakin II Immunostain, Technical Component Only
Characterization of urothelial carcinoma
ALPRT - Overview: Alport (Collagen IV Alpha 5 and Alpha 2) Immunofluorescent Stain, Renal Biopsy
Assisting in the diagnosis of hereditary nephritis (Alport syndrome)
HPL - Overview: Human Placental Lactogen Immunostain, Technical Component Only
Aids in the identification of placenta-related tumors
GGT - Overview: Gamma-Glutamyltransferase (GGT), Serum
Diagnosing and monitoring hepatobiliary disease, it is currently the most sensitive enzymatic indicator of liver disease Ascertaining whether observed elevations of alkaline phosphatase are due to skeletal disease (normal...
GBETH - Overview: General Factor Bethesda Units, Plasma
Detecting and quantifying the presence and titer of a specific factor inhibitor directed against a specific coagulation factor
newborn_screen_follow-up_for_glucose-6-phosphate_dehydrogenase__g-6-pd__deficiency.pdf
Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2024 Decreased glucose-6-phosphate dehydrogenase (G6PD) Not G6PD deficiency. In infants with hyperbilirubinemia, consider...
glucose-6-phosphate-dehydrogenase-deficiency-diagnostic-algorithm.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Diagnostic Algorithm * If patient status is post-allogeneic stem...
Multi-Factor Authentication for Mayo Clinic Laboratories Applications User’s Guide Page 2 6/27/2024 Multi-Factor Authentication User’s Guide TABLE OF CONTENTS Introduction ....................
glucose-6-phosphate-dehydrogenase-genotyping-interpretive-algorithm.pdf
In the following situations, order G6PDZ / Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing: ■ To determine carrier status (female patient) or affected status (male patient) ■ Previous...
04/2024© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Acute Tickborne Disease Testing Algorithm for Mayo Clinic Order: SFGP / Spotted Fever Group Antibody, IgG and IgM, Serum Empiric treatment...