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GTR Home > Tests > ARVC panel

Overview

Test name

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ARVC panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Prognostic, Risk Assessment

Condition

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How to order

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Tests can be referred to the lab either directly by patient/family or by referring physician. The first step will be to contact the Genetic counselor or the medical director of the lab to have detailed instruction that vary upon the specific test that is requested. Since the Lab work in conjunction with an outpatient clinic for inherited arrhythmogenic diseases the test can also be requested directly from the Molecular Cardiology team members.

Specimen source

Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Saliva
White blood cell prep

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)
  • Ion Torrent

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. - PubMed ID: 27931611

Clinical validity

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Mutations are found in 40-50% of subjects with clinical diagnosis

Citations

Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Genetic counseling
  • Result interpretation

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.