GTR Home > Tests > Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel

Overview

Test name

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Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 500

Summary of what is tested

49 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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Order URL Help: http://phosphorus.com/order-test/

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Result interpretation

Practice guidelines

  • 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).
  • HRS/EHRA, 2012
  • ACC/ESC, 2003
    American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.

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