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...
ZMMLS - Overview: Antimicrobial Susceptibility, Aerobic Bacteria, Varies
Determining the in vitro susceptibility of aerobic bacteria involved in human infections
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
GCRNA - Overview: Neisseria gonorrhoeae, Nucleic Acid Amplification, Varies
Detecting Neisseria gonorrhoeae This test is not intended for use in medico-legal applications.
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.
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
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
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
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
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...
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...
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