Search Results
Test Catalog
IL28Q - Overview: Interleukin 28B (IL28B) Variant (rs12979860), Varies
Predicting responsiveness of genotype 1 hepatitis C viral infections to combined pegylated-interferon and ribavirin-based therapies
PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid
Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens
ARSBB - Overview: Arylsulfatase B, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI
WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies
An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...
VEDOZ - Overview: Vedolizumab Quantitation with Antibodies, Serum
Assessing for primary or secondary loss of response to therapy with vedolizumab An aid to achieving desired serum concentrations of vedolizumab
VEDOL - Overview: Vedolizumab Quantitation with Reflex to Antibodies, Serum
Assessing the response to therapy with vedolizumab An aid to achieving desired trough serum concentration of vedolizumab
WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
FG4FI - Overview: IgG4 Food Panel I
IgG4 Food Panel I
TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
AGU20 - Overview: Acylglycines, Quantitative, Random, Urine
Diagnosis and monitoring for patients affected with one of the following inborn errors of metabolism: Fatty Acid Oxidation Disorders: -Glutaric acidemia type II -Medium-chain 3-ketoacyl-coenzyme A (CoA) thiolase (MCKAT)...
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...
PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...
PVLE - Overview: Paraneoplastic Vision Loss Evaluation, Serum
Evaluating patients with rapidly progressive vision loss where a paraneoplastic cause for vision loss (retinopathy or optic neuritis with other findings [eg, retinitis] is suspected) Evaluating patients with small-cell carcinoma who...
XHIM - Overview: X-Linked Hyper IgM Syndrome, Blood
Screening for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years Ascertaining XL-HIGM carrier status in women of child-bearing age (younger than 45 years)
ENAE - Overview: Antibody to Extractable Nuclear Antigen Evaluation, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody (ANA) associated connective tissue disease. May also be indicated in patients who test negative for ANA and have features of Sjogren syndrome and idiopathic...
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
HCVG - Overview: Hepatitis C Virus Genotype, Serum
Determining hepatitis C virus (HCV) genotype (1 to 5) to guide antiviral therapy in patients with chronic hepatitis C Differentiating between HCV subtypes 1a and 1b This assay should not be used as a screening test for HCV infection. It...
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...
CTP0 - Overview: Catecholamine Fractionation, Supine, Plasma, Free
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a supine position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...
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.
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...
C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...
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...
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...
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...
MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum
Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...
MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum
Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...
META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas
CATU - Overview: Catecholamine Fractionation, Free, 24 Hour, Urine
An auxiliary test to fractionated plasma and urine metanephrine measurements in the diagnosis of pheochromocytoma and paraganglioma An auxiliary test to urine vanillylmandelic acid and homovanillic acid determination in the diagnosis and...
RETB - Overview: Reticulocyte Profile, Blood
Assessing erythropoietic bone marrow activity in anemia and other hematologic conditions Assessment of acute iron deficiency Monitoring early response to iron therapy or erythropoiesis-stimulating agents Early monitoring of therapy for...
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,...
PUPYU - Overview: Purines and Pyrimidines Panel, Random, Urine
Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias
PSY - Overview: Psychosine, Blood Spot
Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...
CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies
Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions
TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood
Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...
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
DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies
Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...
CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum
Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...
CRCL - Overview: Creatinine Clearance, Serum and 24-Hour Urine
Estimation of glomerular filtration rate
PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid
Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation
BUN - Overview: Blood Urea Nitrogen (BUN), Serum
Screening test for evaluation of kidney function
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
Identifying HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside reverse-transcriptase inhibitors, protease inhibitors, and integrase strain transfer inhibitors Guiding initiation or change of combination...
AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected Friedreich ataxia
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...
Site Search
Alpha-gal testing [Test in Focus] - Insights
allergy to the alpha-gal molecule, and he describes a new allergen antibody test that can be used to detect it. Dr. Bornhorst also reviews other tests that should be used in conjunction with alpha-gal testing...
MCL Second Trimester Maternal Screening AlphaFetoprotein Quad Screen Patient Information MC1235123
AlphaFetoprotein Quad Screen Patient Information Complete print Reset Form Trimester Maternal Screening Alpha Fetoprotein Quad Screen Patient Information Patient Information required Patient...
Alpha1 Antitrypsin—A Comprehensive Testing Algorithm A1AT serum level and proteotype Order A1ALC / Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum incl......
Neuroimmunology: Updates and antibody test utilization - Insights
In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test...
lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf
Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...