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Test Catalog

VWFMP - Overview: von Willebrand Factor Multimer Analysis, Plasma

As a reflex component of several coagulation consultation unit codes, when indicated When results of complementary laboratory tests are abnormally low or discordant (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von...

WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies

Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...

CCMVU - Overview: Congenital Cytomegalovirus (cCMV), Molecular Detection, PCR, Urine

Aiding in the rapid diagnosis of cytomegalovirus infections in neonates 21 days of age or younger using urine specimens

CCMVS - Overview: Congenital Cytomegalovirus (cCMV), Molecular Detection, PCR, Saliva

Aiding in the rapid diagnosis of cytomegalovirus (CMV) infections in neonates 21 days of age or younger using saliva specimens

EXHD - Overview: Hematologic Disorders, DNA Extract and Hold, Varies

Reserving DNA on any specimen for which molecular analysis requiring DNA may be necessary at a future date, ensuring that adequate material for testing is available

WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...

WESR - Overview: Whole Exome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...

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...

EXHR - Overview: Hematologic Disorders, DNA and RNA Extract and Hold, Varies

Reserving nucleic acids on any specimen for which molecular analysis requiring DNA or RNA may be necessary at a future date, ensuring that adequate material for testing is available

FFTRO - Overview: Trofile DNA Co-Receptor Tropism Assay

Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as Selzentry™ (maraviroc).

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...

FFTRP - Overview: Trofile Co-Receptor Tropism Assay

Detect HIV-1 coreceptor tropism; determine eligibility for CCR5 antagonist therapy such as maraviroc (Selzentry)

TLBLF - Overview: T-Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client specified probes Identifying and tracking known chromosome abnormalities in patients with T-ALL and...

GALK - Overview: Galactokinase, Blood

Diagnosis of galactokinase deficiency Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts

CIDP - Overview: Chronic Inflammatory Demyelinating Polyradiculoneuropathy/Nodopathy Evaluation, Serum

Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies

GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results

TRCHG - Overview: ToRCH Profile IgG, Serum

Determining immune status of individuals to the rubella virus following vaccination or prior exposure Indicating past or recent infection with Toxoplasma gondii, cytomegalovirus, or herpes simplex virus (HSV) Distinguishing between...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies

Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...

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...

MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...

CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...

FPFUZ - Overview: Phenosense Entry HIV Drug Resistance Assay

Determines phenotypic susceptibility to enfuvirtide (Fuzeon) and assesses likely effectiveness before enfuvirtide is added to a patient's regimen or before changing a regimen that includes enfuvirtide.

Performing Locations - Mayo Clinic Laboratories

Performing Locations About the Online Test Catalogs Test catalogs for the Rochester, Florida (Jacksonville), and Arizona performing locations are comprehensive. Each catalog contains tests performed by that...

HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia

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...

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...

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

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection Quantification of HCV RNA in serum of patients with...

LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...

AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...

PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...

FPHIV - Overview: Phenosense HIV Drug Resistance Replication Capacity

Determines viral phenotype resistance to three classes of commonly prescribed antiretroviral drugs: nucleoside reverse transcriptase inhibitors (NRTI), non-nucleoside reverse transcriptase inhibitors (NNRTI), and protease inhibitors (PI)....

LRCCZ - Overview: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...

EBLPD - Overview: Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...

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...

BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...

BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...

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

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The ABCs of Lyme Disease - Insights

To help you learn more about Lyme disease, “The ABCs of Lyme Disease” flash cards include information about symptoms, treatment, and other important facts....

Test Catalog Specimen Rejection Information Update - Insights

The “Reject Due To” information contained in our online test catalog is being updated to provide greater clarity around rejection standards....

Resources & Accreditation - Insights

Go to My Events and Certificates How To Print Certificate (PDF) Accreditation Credit offered on programs when designated. Credit Matrix In support of...

The ABCs of Lyme Disease - Insights

To help you learn more about Lyme disease, “The ABCs of Lyme Disease” flash cards include information about symptoms, treatment, and other important facts....