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GTR Home > Tests > Cardiology Sequencing- Familial Hypercholesterolemia (15 Genes)

Overview

Test order codeHelp: CARDFHCL

Test name

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Cardiology Sequencing- Familial Hypercholesterolemia (15 Genes)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment, Screening

Condition

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How to order

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Not provided

Specimen source

Peripheral (whole) blood
Buccal swab

Methodology

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Molecular Genetics
XMutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility

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Guidance for management

Citations
  • Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine. - PubMed ID: 28137961

Clinical validity

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Not provided

Practice guidelines

  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APOB, LDLR, PCSK9 Pathogenic Variants (Familial Hypercholesterolemia), 2019
  • CSANZ, 2016
    The Cardiac Society of Australia and New Zealand, Diagnosis and Management of Familial Hypercholesterolaemia – Position Statement
  • NICE, 2019
    National Institute for Health and Clinical Excellence, Identification and management of familial hypercholesterolaemia, 2008 [Updated: 4 October 2019]

Consumer resources

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.