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Test Catalog
DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies
Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies
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...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
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
HVCOP - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Plasma
Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.
GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood
Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies
Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...
ANST - Overview: Androstenedione, Serum
Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...
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...
CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy Establishing a diagnosis of a hereditary form of cardiomyopathy
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 known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...
UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...
TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies
Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...
TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood
Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...
TIKLB - Overview: Tick-Borne Panel, Molecular Detection, PCR, Blood
Evaluating patients with suspected human monocytic ehrlichiosis, human granulocytic anaplasmosis, babesiosis, or Borrelia miyamotoi infection Evaluating patients with a history of, or suspected, tick exposure who are presenting with...
AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies
Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.
GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies
Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status
CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
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...
MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor
Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...
CDSP - Overview: Celiac Disease Serology Cascade, Serum
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...
PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...
PSYQP - Overview: Psychotropic Pharmacogenomics Gene Panel, Varies
Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation Identifying genetic variation in genes known to be associated with response and/or risk...
REVE2 - Overview: Erythrocytosis Evaluation, Blood
Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit
EEST - Overview: Estradiol, Serum
All applications that require moderately sensitive measurement of estradiol: -Evaluation of hypogonadism and oligo-amenorrhea in females -Assessing ovarian status, including follicle development, for assisted reproduction protocols (eg, in...
GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...
Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...
AHLP - Overview: AudioloGene Hearing Loss Panel, Varies
Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
CDCOM - Overview: Celiac Disease Comprehensive Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated...
PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
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...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
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,...
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 B-cell acute lymphoblastic...
IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
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,...
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12
CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12
Predicting macrolide susceptibility in Mycoplasma (Mycoplasmoides) pneumoniae
MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens
Site Search
February 2020 - Laboratory Genetics & Genomics - Insights
A 71 yr old female with a history of a central nervous system lymphoma, an allogenic stem cell transplant and graft versus host disease was tested for...
inflammatory-bowel-disease-diagnostic-testing-algorithm.pdf
YES <50 mcg/g <50 mcg/g Abnormal >50 mcg/g Normal ANCA present ASCA IgG and IgA absent ANCA absent ASCA IgG or IgA present ANCA absent ASCA IgG or IgA absent >120 mcg/g50-120 mcg/g NO Assessing a patient...
Find out how our sarcoma panel assesses gene mutations and fusions described in more than 50 types of soft tissue, bone, and other mesenchymal tumors....
July 2019 — Cardiovascular - Insights
A 50-year-old man who was known to have systemic hypertension developed sudden onset of severe back pain with associated diaphoresis. He lost...
Mayo Clinic’s Neuro-Oncology practice, the Division of Laboratory Genetics and Genomics tests about 50 brain tumors a week, and upwards of 1,500 brain tumors a year from all over the world....