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Test Catalog

PLASF - Overview: Plasma Cell Proliferative Disorder, FISH, Tissue

Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation

IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum

Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

HTGR - Overview: Thyroglobulin, Tumor Marker Reflex, Serum

Reporting of accurate thyroglobulin results, depending on the antithyroglobulin antibodies status of the patient Accurate measurement of serum thyroglobulin in patients with known or suspected antithyroglobulin autoantibodies or possible...

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...

HBGSN - Overview: Hepatitis B Virus Surface Antigen Screen, Serum

Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for diagnosis of hepatitis...

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

HCVDX - Overview: Hepatitis C Virus (HCV) Antibody with Reflex to HCV RNA, PCR, Symptomatic, Serum

Diagnosis of recent or chronic hepatitis C virus (HCV) infection in symptomatic patients This test should not be used as a screening or confirmatory test for hepatitis C in blood or human cells/tissue donors. This test profile is not...

HITIG - Overview: Heparin-PF4 IgG Antibody, Serum

Detection of IgG antibodies directed against heparin/platelet factor 4 complexes that are implicated in the pathogenesis of immune-mediated type II heparin-induced thrombocytopenia, spontaneous heparin platelet-factor 4 IgG antibody, and...

FAPEP - Overview: Fatty Acid Profile, Essential, Serum

Evaluating the nutritional intake and intestinal absorption of essential fatty acids using serum specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...

HBABY - Overview: Hepatitis B Virus Perinatal Exposure Follow-up Panel, Serum

Determining hepatitis B virus infection and immunity status (with or without perinatal prophylaxis) in infants born to mothers with chronic hepatitis B

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

EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies

Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...

CFRCS - Overview: Bacterial Culture, Cystic Fibrosis with Antimicrobial Susceptibilities, Varies

Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis Determining the in vitro antimicrobial susceptibility of potentially pathogenic aerobic bacteria, if appropriate

RBART - Overview: Bartter Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome

BLYM - Overview: B-Cell Lymphoma, FISH, Tissue

Detecting recurrent common chromosome abnormalities associated with various B-cell lymphomas in paraffin-embedded tissue specimens at diagnosis

CHBVS - Overview: Chronic Hepatitis B Screen, Serum

Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...

CHSBP - Overview: Chronic Hepatitis B Monitoring Profile, Serum

Evaluating and monitoring individuals with known chronic hepatitis B Monitoring hepatitis B viral infectivity after resolution of acute hepatitis B

DENVP - Overview: Dengue Virus Antibody/Antigen Panel, Serum

Aiding in the diagnosis of dengue virus infection by detection of IgM and IgG antibodies and the nonstructural protein 1 (NS1)

CORTC - Overview: Corticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...

EOSDF - Overview: Chronic Eosinophilia, Diagnostic FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1). Supporting the...

CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum

Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH

HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

HCSRN - Overview: Hepatitis C Virus (HCV) Antibody Screen with Reflex to HCV RNA, PCR, Asymptomatic, Serum

Screening for hepatitis C virus (HCV) infection in primary care settings in high-risk persons with a current or previous history of illicit injection drug use or a history of receiving a blood transfusion prior to 1992 Screening for...

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

MBX - Overview: Muscle Pathology Consultation

Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance

CTRNA - Overview: Chlamydia trachomatis, Nucleic Acid Amplification, Varies

Detecting Chlamydia trachomatis This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

HPWET - Overview: Hematopathology Consultation, MCL Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and non-hematologic diseases using unprocessed bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with a skeletal muscle channelopathy Identifying variants within genes known to be associated with a skeletal muscle channelopathy allowing for predictive testing of at-risk family members

PFAPE - Overview: Fatty Acid Profile, Essential, Plasma

Evaluating the nutritional intake and intestinal absorption of essential fatty acids using plasma specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...

DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...

GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...

PHI11 - Overview: Prostate Health Index Reflex, Serum

As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL and digital rectal examination findings that are not suspicious for cancer

HPCUT - Overview: Hematopathology Consultation, Client Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and nonhematologic diseases using bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

HCVDR - Overview: Hepatitis C Virus Genotypic Antiviral Drug Resistance, Serum

Detecting and identifying codon substitutions in the hepatitis C virus (HCV) NS3, NS5A, and NS5B genomic regions that confer resistance to current direct-acting antiviral drugs used for treatment of chronic hepatitis C infection due to HCV...

FIBRO - Overview: FibroTest-ActiTest, Serum

Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...

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...

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

LGCMP - Overview: Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

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...

PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members

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,...

ACRNS - Overview: Acylcarnitines, Quantitative, Serum

Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

ACRN - Overview: Acylcarnitines, Quantitative, Plasma

Diagnosis of fatty acid oxidation disorders and several organic acidurias using plasma specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

RSCGP - Overview: Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

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...

JIP - Overview: Joint Infection Panel, PCR, Synovial Fluid

Rapid detection of synovial fluid infections caused by the following: Anaerococcus prevotii/vaginalis Finegoldia magna Streptococcus species Clostridium perfringens Parvimonas micra Streptococcus agalactiae Cutibacterium...

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...

GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...

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Hypersensitivity Testing and Initial Patient Management Algorithm 1. Saag M, Balu R, Phillips E, et al. High sensitivity of human leukocyte antigen-b*5701......

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G U ID E D ’EXPÉD ITIO N IN TERN ATIO N ALEENVOYER DES TESTS À LA MAYO CLINIC DEPUIS LE MONDE ENTIER 2 | GUIDE D’EXPÉDITION INTERNATIONALE TABLE DES MATIÈRES EXPÉDIER AUX ÉTATS-UNIS DEPUIS LE MONDE ENTIER 3 Avant...

Pediatric neuro-oncology informative cases - Insights

Neuro-oncology is a complex field undergoing rapid changes with the advancement and evolution of sophisticated genetic testing. Evidence continues to grow in support of broad molecular and cytogenetic analysis for patients with brain...

Myeloproliferative Neoplasm: Morphology, Molecular Updates and Cost-Effective Test Utilization - Insights

The diagnosis of Myeloproliferative Neoplasm (MPN) must include an integrated approach and combine the clinical findings with laboratory results. In our latest “Hot Topic,” Rong He, M.D., discusses the subclassification of MPNs and the use...

MCL Autoimmune Axonal Neuropathy A Comprehensive Testing Approach MC2775425

MCL Autoimmune Axonal Neuropathy Comprehensive Testing Approach NEUROLOGY AUTOIMMUNE AXONAL NEUROPATHY COMPREHENSIVE TESTING APPROACH Patients neuropathy variable sensory motor disturbance loss exaggerated