ROMA1 - Overview: Risk Score, if Premenopausal, Serum
Calculating risk assessment for finding an ovarian malignancy during surgery in premenopausal women who present with an adnexal mass
Increased levels of neopterin are found during impaired renal function and viral infection in transplant patients. Elevated levels are also indicators for conditions related to impaired cellular immunity.
WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies
Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...
NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies
Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...
GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies
Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...
SNS - Overview: Supplemental Newborn Screen, Blood Spot
Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...
FGHTP - Overview: Ghrelin Total (Plasma)
Ghrelin Total (Plasma)
8INHT - Overview: Factor VIII Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to factor VIII testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific...
GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...
WESDX - Overview: Whole Exome 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...
VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma
Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...
PDBS - Overview: Pompe Disease, Blood Spot
Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting
HGH - Overview: Growth Hormone, Serum
Diagnosis of acromegaly and assessment of treatment efficacy when interpreted in conjunction with results from glucose suppression test Diagnosis of human growth hormone deficiency when interpreted in conjunction with results from growth...
USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...
HERMB - Overview: HER2, Breast, Semi-Quantitative Immunohistochemistry, Manual with HER2 FISH Reflex
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections
HBA1C - Overview: Hemoglobin A1c, Blood
Evaluating the long-term control of blood glucose concentrations in patients with diabetes Diagnosing diabetes Identifying patients at increased risk for diabetes (prediabetes) This assay is not useful in determining day-to-day glucose...
GPSYW - Overview: Glucopsychosine, Blood
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...
9INHE - Overview: Factor IX Inhibitor Evaluation, Plasma
Detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a...
FET - Overview: Iron, Liver Tissue
Diagnosis of hemochromatosis using liver tissue specimens
Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia This test is not intended for use in providing prognostic information for patient with other B-cell neoplasms or hematopoietic tumors.
ANA2 - Overview: Antinuclear Antibodies (ANA), Serum
Evaluating patients at-risk for antinuclear antibodies-associated systemic autoimmune rheumatic disease particularly systemic lupus erythematosus, Sjogren syndrome, and mixed connective tissue disease
ATTI - Overview: Antithrombin Antigen, Plasma
Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), the recommended primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with...
ASPAG - Overview: Aspergillus (Galactomannan) Antigen, Serum
Aiding in the diagnosis of invasive aspergillosis Assessing response to therapy
Monitoring response to therapy in patients with known e1/a2 BCR/ABL1 (p190) fusion forms
Preferred diagnostic test for the detection of Bordetella pertussis or Bordetella parapertussis This test is not recommended for screening asymptomatic individuals who may carry B pertussis or parapertussis. This test is not recommended...
NPM1Q - Overview: Nucleophosmin (NPM1) Mutation Analysis, Varies
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease
NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid
An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges
CMAH - Overview: Chromosomal Microarray, Hematologic Disorders, Varies
Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms Assisting in the diagnosis and classification of certain hematologic neoplasms Evaluating the prognosis for...
CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...
CLFA - Overview: Cryptococcus Antigen Screen with Titer, Spinal Fluid
Aiding in the diagnosis of cryptococcosis This test should not be performed as a screening procedure for the general population. This test should not be used as a test of cure or to guide treatment decisions.
SLFA - Overview: Cryptococcus Antigen Screen with Titer, Serum
Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions. This test should not be used as a screening procedure for the general populations.
DDITT - Overview: D-Dimer, Plasma
Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...
EBVPV - Overview: Epstein-Barr Virus (EBV), Molecular Detection, PCR, Varies
Rapid qualitative detection of Epstein-Barr virus (EBV) DNA in specimens Diagnosis of disease due to EBV This test should not be used to screen asymptomatic patients.
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using plasma specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue
Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13
GPSYP - Overview: Glucopsychosine, Plasma
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...
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
HVDIP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Plasma
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This test is not useful as...
NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...
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...
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...
HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...
HVPPS - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation Prenatal, Serum
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens from prenatal patients who show reactive results with 3rd- (HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This...
HVDSP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Prenatal, Plasma
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens from prenatal patients who show reactive results with 3rd- (HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This...
AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected Friedreich ataxia
MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions
ABADL - Overview: Adalimumab Antibody, Serum
Therapeutic drug monitoring of adalimumab antibody levels
Hypersensitivity Testing and Initial Patient Management Algorithm 1. Saag M, Balu R, Phillips E, et al. High sensitivity of human leukocyte antigen-b*5701......
international-shipping-guide-french.pdf
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