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Test Catalog
MSAES - Overview: Myositis Specific Antibody Evaluation, Serum
Accurately diagnosing, classifying, and managing idiopathic inflammatory myopathies (IIM) by identifying subtype-specific biomarkers that guide prognosis and treatment Enabling early detection of IIM, particularly in atypical or severe...
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH
Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies
SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia
TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum
Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum
Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...
VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
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
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...
CLADP - Overview: Congenital Lactic Acidosis Panel, Varies
Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...
HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
LYNCP - Overview: Lynch Syndrome Panel, Varies
Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...
LQTSG - Overview: Long QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS
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
3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...
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
GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...
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
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...
ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members
ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...
IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
IGFMS - Overview: Insulin-Like Growth Factor-1, Mass Spectrometry, Serum
Evaluation of growth disorders Evaluation of growth hormone deficiency or excess in children and adults Monitoring of recombinant human growth hormone treatment Follow-up of individuals with acromegaly and gigantism
Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using spinal fluid specimens
SSCP - Overview: Systemic Sclerosis Criteria Panel, Serum
Evaluating patients with antinuclear antibody-associated connective tissue disease, specifically systemic sclerosis
Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens
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
LLPT - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Tissue
Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia
MPSWB - Overview: Mucopolysaccharidosis, Blood
Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens
MPSBS - Overview: Mucopolysaccharidosis, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens
BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...
ADALP - Overview: Adalimumab Quantitative with Antibody, Serum
Therapeutic drug monitoring of adalimumab concentration and antibody levels
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,...
HMDB - Overview: Heavy Metals Screen with Demographics, Blood
Detecting exposure to arsenic, lead, cadmium, and mercury
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...
INFXP - Overview: Infliximab Quantitation with Antibodies to Infliximab, Serum
Trough level quantitation for evaluation of patients undergoing therapy with infliximab for proactive or reactive therapeutic drug monitoring.
HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine
Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens
RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...
ATAXP - Overview: Inherited Ataxia Gene Panel, Varies
Establishing a molecular diagnosis for patients with ataxia Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members
Detecting Chlamydia trachomatis and/or Neisseria gonorrhoeae This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.
CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease
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
CGAK - Overview: Chromogranin A, Serum
Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...
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MCL Pharmacogenomic Associations Tables MC409162
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