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GTR Home > Tests > Hypertrophic Cardiomyopathy Extended Panel

Overview

Test name

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Hypertrophic Cardiomyopathy Extended Panel

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Order URL Help: http://www.healthincode.com/index.php?option=com_content&view=article&id=138&Itemid=159&lang=en

Specimen source

Isolated DNA
Paraffin block
Peripheral (whole) blood
Plasma
Saliva
Serum

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Qiagen QIAcube

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Data Storage and Backup
  • Genetic counseling
  • Result interpretation

Practice guidelines

  • ACMG SF v3.1, 2022
    ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
  • ACMG SF v3.0, 2021
    ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ESC, 2014
    2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
  • AHRQ, 2013
    Assessment on Implantable Defibrillators and the Evidence for Primary Prevention of Sudden Cardiac Death (ARCHIVED)
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • EuroGenetest, 2011
    Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

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