GTR Home > Tests > TPM1-Related Familial Hypertrophic Cardiomyopathy

Overview

Test name

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TPM1-Related Familial Hypertrophic Cardiomyopathy

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Uni-directional Sanger sequencing

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Not provided

Practice guidelines

  • 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.
  • 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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