EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...
Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis
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...
TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood
Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis
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...
MB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies (IgG...
GB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected, in conjunction with cardiolipin antibodies (IgG...
MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue
Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation
SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma
LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue
Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors
17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum
An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...
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
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
H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...
THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...
RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...
HPVE6 - Overview: Human Papillomavirus (HPV) High-Risk E6/E7, RNA In Situ Hybridization
Stratification of oropharyngeal squamous cell carcinoma
23FBG - Overview: Fibroblast Growth Factor-23 (FGF23), In Situ Hybridization
Assessing fibroblast growth factor-23 (FGF23) expression
Evaluating patients with suspected autoimmune encephalitis and autoimmune epilepsy using serum specimens
Evaluating patients with suspected autoimmune encephalitis and autoimmune epilepsy using spinal fluid specimens
COL7 - Overview: Anti-Collagen type VII, IgG Antibodies, Serum
Initial screening test in the diagnosis of epidermolysis bullosa acquisita and other immunobullous diseases mediated by collagen VII
HPVLR - Overview: Human Papillomavirus (HPV) Low Risk, In Situ Hybridization
Detection of human papillomavirus from low-risk genotypes (6, 11)
HEXP - Overview: Iohexol, Plasma
Determining glomerular filtration rate in plasma specimens
PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid
Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens
PNEFS - Overview: Neuroimmunology Antibody Follow-up, Serum
Monitoring patients who have previously tested positive for one or more antibodies within the past 5 years in a Mayo Neuroimmunology Laboratory serum evaluation
AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms that appear...
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,...
VH - Overview: Vanillylmandelic Acid and Homovanillic Acid, Random, Urine
Preferred first test for screening for catecholamine-secreting tumors in a random urine specimen when requesting both homovanillic acid and vanillylmandelic acid Supporting a diagnosis of neuroblastoma Monitoring patients with a treated...
RIB - Overview: Ribosome P Antibodies, IgG, Serum
As an adjunct in the diagnostic evaluation of patients with systemic lupus erythematosus (SLE) May be useful in the phenotypic stratification of SLE patients at risk for neuropsychiatric SLE, lupus nephritis and/or hepatitis
HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies
Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele
BRAFD - Overview: BRAF V600E/V600K Somatic Mutation Analysis, Tumor
Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers that may not respond to EGFR inhibitors) Aiding in the diagnosis/prognosis of certain cancers (eg, hairy cell leukemia, papillary...
BA48F - Overview: Bile Acids, Bowel Dysfunction, 48 Hour, Feces
Aids in evaluation of patients suspected of having irritable bowel syndrome-diarrhea symptoms due to bile acid malabsorption
BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies
Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...
Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma
Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...
Detection of severe respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of coronavirus disease 2019 (COVID-19) in formalin-fixed, paraffin-embedded tissue
C341Q - Overview: Complement C3 and C4 with Anti-C1q Antibodies, Serum
Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus
DBS1 - Overview: Diabetes Mellitus Type 1 Evaluation, Serum
Distinguishing type 1 from type 2 diabetes mellitus Identifying individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes) Predicting future insulin requirement treatment in patients with adult-onset...
RNAP - Overview: RNA Polymerase III Antibodies, IgG, Serum
Evaluating patients suspected of having systemic sclerosis as part of systemic sclerosis criteria antibody tests Providing diagnostic and prognostic information in patients with systemic sclerosis
VMA - Overview: Vanillylmandelic Acid, 24 Hour, Urine
Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting testing for vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma
Assessing cytomegalovirus (CMV)-specific immune competence in allo-hematopoietic stem cell transplantation patients who are at risk for developing late CMV disease (beyond day 100 after transplant) Assessing CMV-specific immune competence...
WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
PSAFT - Overview: Prostate-Specific Antigen (PSA), Total and Free, 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 with digital rectal examination findings that are not suspicious for cancer
F822P - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Prenatal
Prenatal testing for hemophilia A when a F8 intron 22 inversion has been identified in a family member
MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor
Primarily for determining patient response to various targeted therapies/immunotherapy Predicting prognosis from microsatellite instability status
B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...
Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma
SZDIA - Overview: Sezary Diagnostic Flow Cytometry, Blood
Identifying immunophenotypically aberrant T-cell populations with restricted expression of T-cell receptor beta-chain constant in peripheral blood, to roughly assess the circulating tumor burden in cutaneous T-cell lymphomas
PNTO - Overview: Streptococcus pneumoniae IgG Antibodies, Total, Serum
Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...
TLYM - Overview: T-Cell Lymphoma, FISH, Tissue
Detecting common, recurrent chromosome abnormalities in various T-cell lymphomas in paraffin-embedded tissue specimens at diagnosis Providing prognostic information in patients with documented systemic ALK-negative anaplastic large cell...
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