CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
TTGA - Overview: Tissue Transglutaminase Antibody, IgA, Serum
Assessment of tissue transglutaminase 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...
CMPRG - Overview: Family Member Comparator Specimen for Genome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing
INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum
Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring...
LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies
Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...
POSV - Overview: Post Vasectomy Check, Semen
Determining absence or presence of sperm postvasectomy
TRMP - Overview: Trimipramine, Serum
Monitoring trimipramine concentration during therapy Evaluating potential trimipramine toxicity May aid in evaluating patient compliance
TLB - Overview: Thallium, Blood
Detecting toxic exposure in whole blood specimens
FLUC - Overview: 5-Flucytosine, Serum
Monitoring serum concentration during therapy Evaluating potential toxicity May aid in evaluating patient compliance
HAPT - Overview: Haptoglobin, Serum
Confirmation of intravascular hemolysis
AFOLR - Overview: Folate Receptor Alpha (FOLR1), Semi-Quantitative Immunohistochemistry, Manual
Diagnosis of epithelial ovarian cancer that may be eligible for treatment with an anti-folate receptor 1 protein antibody
IL1B - Overview: Interleukin-1 Beta, Plasma
Measuring the concentration of interleukin-1 beta in plasma Evaluating patients experiencing inflammatory conditions, autoinflammatory disorders, and infection
SORBU - Overview: Sorbitol and Mannitol, Quantitative, Random, Urine
Monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG) Establishing a baseline level prior to initiating treatment for PMM2-CDG This test is not useful for diagnosing congenital disorders of...
NAACD - Overview: N-Acetylaspartic Acid, Canavan Disease, Random, Urine
Diagnosis and monitoring of individuals with Canavan disease Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid
TPIC - Overview: Triosephosphate Isomerase Enzyme Activity, Blood
Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency
THSD7 - Overview: Thrombospondin Type-1 Domain-Containing 7A Antibodies, Serum
Distinguishing primary from secondary membranous nephropathy cases with antibodies against THSD7A
DESPR - Overview: Desipramine, Serum
Monitoring serum concentration of desipramine during therapy Evaluating potential desipramine toxicity May aid in evaluating patient compliance
CHLE - Overview: Cholesteryl Esters, Serum
Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease
CCTR - Overview: Calcium/Creatinine Ratio, Random, Urine
Calculation of calcium concentration per creatinine concentration
PALB - Overview: Prealbumin, Serum
Assessing nutritional status, especially in monitoring the response to nutritional support in the acutely ill patient
RATO2 - Overview: Protein/Creatinine, Random, Urine
Calculation of total protein concentration per creatinine concentration
TLBLF - Overview: T-Lymphoblastic Leukemia/Lymphoma, FISH, Tissue
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client specified probes Identifying and tracking known chromosome abnormalities in patients with T-ALL and...
NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies
Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...
GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies
Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...
Screening for infection with high-risk human papillomavirus (HPV) associated with the development of cervical cancer Individual genotyping of HPV-16 and/or HPV-18 if present This testing is intended for use in clinical monitoring and...
GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies
Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...
NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...
GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies
Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...
NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...
AATHR - Overview: Thrombophilia Profile, Plasma and Whole Blood
Evaluating patients with thrombosis or hypercoagulability states Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis Detecting a deficiency of...
CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet
MCLNG - Overview: MayoComplete Lung Cancer-Targeted Gene Panel with Rearrangement, Tumor
Diagnosis and management of patients with lung cancer Assessing microsatellite instability
QMPSS - Overview: Monoclonal Protein Study, Quantitative, Serum
Aiding in the diagnosis and monitoring of monoclonal gammopathies, when used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...
CDS1 - Overview: CNS Demyelinating Disease Evaluation, Serum
Diagnosis of inflammatory demyelinating diseases (IDDs) with similar phenotype to neuromyelitis optica spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
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...
H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...
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...
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...
RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue
Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...
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...
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
Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...
TCD4 - Overview: CD4 Count for Immune Monitoring, Blood
Serial monitoring of CD4 T cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell immune monitoring following...
CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies
Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have...
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.
PEWE - Overview: Porphyrins Evaluation, Washed Erythrocytes
Preferred test for analysis of erythrocyte porphyrins Establishing a biochemical diagnosis of erythropoietic protoporphyria, and X-linked dominant protoporphyria
Week in Review: February 3 - Insights
Include: President Biden to End Covid-19 Emergencies On May 11, and Children’s Minnesota Received $3 Million Grant To Address Pediatric Health Disparities....
Leveraging the Laboratory Archives - Page 3 of 3 - Insights
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Detection of (1→3)-𝝱-D-glucan as a Marker of Invasive Fungal Disease - Insights
In this month’s “Hot Topic,” Elitza Theel, Ph.D., will discuss the detection of (1→3)-β-D-glucan (BDG) in serum as a biomarker for the presence of invasive fungal infections....
Phlebotomy Modules: Module 3 | Insights
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Week in Review: March 3 - Insights
Today's Highlights Include: COVID-19 deaths remain low compared to previous winters, FDA authorizing first at-home combo flu/Covid test, and Rochester public schools evaluating mental health needs and services throughout the district.