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GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...

ANPAT - Overview: Anatomic Pathology Consultation, Wet Tissue

Obtaining a rapid, expert opinion on unprocessed specimens (lung tissue for immunofluorescence, cardiac biopsies, enucleated eye specimens, iris, conjunctiva, cornea, and other small eye biopsies) referred by a pathologist This test is not...

FLARP - Overview: Free-Living Amebae, Molecular Detection, PCR, Varies

Aids in the diagnosis of primary amebic meningoencephalitis and granulomatous amebic encephalitis in spinal fluid and tissue in conjunction with clinical and radiologic findings This test should not be used to screen asymptomatic patients.

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

COGBL - Overview: Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Blood

Evaluation of pediatric blood specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical trials...

PSHIV - Overview: HIV-1 RNA Patient Source, Plasma

Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event

IFG23 - Overview: Intact Fibroblast Growth Factor 23, Serum

Diagnosing and monitoring tumor induced osteomalacia Diagnosing X-linked hypophosphatemia or autosomal dominant hypophosphatemic rickets Diagnosing familial tumoral calcinosis with hyperphosphatemia

INHAB - Overview: Inhibin A and B, Tumor Marker, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin A or overexpress inhibin B

PANOX - Overview: Pain Clinic Survey 10, Chain of Custody, Random, Urine

Detecting drug use involving amphetamines, barbiturates, benzodiazepines, cocaine, methadone, opiates, phencyclidine, and tetrahydrocannabinol This chain-of-custody test is intended to be used in a setting where the test results can be...

PQNRU - Overview: Porphyrins, Quantitative, Random, Urine

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...

SERWB - Overview: Serotonin, Blood

In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...

RPRS - Overview: Rapid Plasma Reagin Screen with Reflex, Serum

Aiding in the diagnosis of recent or past Treponema pallidum infection Rapid plasma reagin screening when T pallidum antibody screen is positive This test is not useful as a screening or confirmatory test for blood donor specimens.

UNIPD - Overview: Uniparental Disomy, Varies

Evaluation of patients presenting with mosaicism, confined placental mosaicism, or Robertsonian translocations Evaluation of patients presenting with features of disorders known to be associated with uniparental disomy (eg, Russell-Silver...

GLIOF - Overview: 1p/19q Deletion in Gliomas, FISH, Tissue

Aids in diagnosing oligodendroglioma tumors and predicting the response of an oligodendroglioma to therapy May be useful in tumors with a complex "hybrid" morphology requiring differentiation from pure astrocytomas to support the presence...

NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...

GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...

ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease

CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...

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

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...

EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...

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

HCVSP - Overview: Hepatitis C Virus (HCV) Antibody Screen Prenatal, Serum

Screening of pregnant women for hepatitis C virus (HCV) infection in primary care settings, with or without risk factors for hepatitis C This test should not be used as a screening test for hepatitis C in blood or human cells/tissue...

HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...

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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...