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IL1B - Overview: Interleukin-1 Beta, Plasma

Measuring the concentration of interleukin-1 beta in plasma Evaluating patients experiencing inflammatory conditions, autoinflammatory disorders, and infection

NEFA - Overview: Free Fatty Acids, Total, Serum

Evaluation of metabolic status of patients with endocrinopathies Monitoring of control of diabetes mellitus Monitoring the effects of therapeutic diet/exercise lifestyle changes

POU - Overview: Phosphorus, 24 Hour, Urine

Evaluation of hypo- or hyper-phosphatemic states Evaluation of patients with nephrolithiasis

PA - Overview: Procainamide and N-Acetylprocainamide, Serum

Monitoring therapy with procainamide Assessing compliance Evaluating procainamide toxicity

POU_F - Overview: Phosphorus, Feces

Workup of cases of chronic diarrhea Identifying the use of phosphate-containing laxatives contributing to osmotic diarrhea

MSTC - Overview: Strict Criteria Sperm Morphology for Infertility Diagnosis and Treatment, Semen

Diagnosing male infertility Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and white blood cells per mL of semen

ROC - Overview: Rubeola (Measles) Antibodies, IgG and IgM, Spinal Fluid

Diagnosing central nervous system rubeola (measles) virus infection and/or subacute sclerosing panencephalitis

VITE - Overview: Vitamin E, Serum

Monitoring of Vitamin E supplementation/treatment Potentially detecting Vitamin E overdoses

A1AF - Overview: Alpha-1-Antitrypsin, Random, Feces

Diagnosing protein-losing enteropathies, especially when used in conjunction with serum alpha-1-antitrypsin (AAT) levels as a part of AAT clearance studies

HAEV1 - Overview: Hemolytic Anemia Evaluation, Blood

Evaluation of lifelong or inherited hemolytic anemias, including red blood cell membrane disorders, unstable or abnormal hemoglobin variants, and red blood cell enzyme disorders This evaluation is not suitable for acquired causes of...

MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens

CMVC8 - Overview: Cytomegalovirus (CMV) CD8 T-Cell Immune Competence, Quantitative Assessment by Flow Cytometry, Blood

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...

TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...

PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum

Serological 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...

DRVI1 - Overview: Dilute Russell's Viper Venom Time (DRVVT), with Reflex, Plasma

Detecting and confirming or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

VHPV - Overview: Human Papillomavirus (HPV) Vaginal Detection with Genotyping for High-Risk Types by PCR

Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...

HCCGS - Overview: Hepatocellular Carcinoma Risk Panel with GALAD Score, Serum

Risk assessment for development of hepatocellular carcinoma in patients with chronic liver disease

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

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...

PGXQP - Overview: Focused Pharmacogenomics Panel, Varies

Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations

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...

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...

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...

NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...

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...

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...

HCVRP - Overview: Hepatitis C Virus (HCV) RNA Detection and Quantification, Real-Time Reverse Transcription-PCR, Prenatal, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) in women who are pregnant Detection and confirmation of chronic HCV infection in women who are...

MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue

Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation

MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma

LPSC1 - Overview: Lipid Panel, Serum

Managing atherosclerotic cardiovascular disease risk using serum specimens

LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies

Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...

KCSF - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid

Diagnosing multiple sclerosis and other demyelinating conditions Evaluating patients who present with a clinically isolated syndrome in which the patient reports symptoms (headaches, optic neuritis, fatigue, and many others, depending on...

CTB - Overview: Mycobacteria and Nocardia Culture, Varies

Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood

Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...

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MCL - Trace Metals Analysis Specimen Collection and Transport - MC1235-233

MC1235-233rev0720Page 1 of 4©2020 Mayo Foundation for Medical Education and Research Trace Metals Analysis Specimen Collection and Transport Introduction Trace metals exist in our environment at concentrations...

MC4091-67CH.indd

T800 MC4091-67CH MC4091-67CH.indd 1-2 11/14/2017 9:23:30 AM MC4091-67CH.indd 3-4 11/14/2017 9:23:30 AM...

lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf

Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W / Mucopolysaccharidosis IV Enzyme Panel, Leukocytes ......

lysosomal-disorders-diagnostic-algorithm-part1.pdf

Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: ■ MPS4W / Mucopolysaccharidosis IV Enzyme Panel, Leukoc......

inherited_motor_neuron_disease_testing_algorithm.pdf

Research (MFMER). All rights reserved. 12/2022 Spinal muscular atrophy (SMA) phenotype -SMA types 1-4 Order SMNDX / Spinal Muscular Atrophy Diagnostic Assay by Deletion/ Duplication Analysis Spinal bulbar...