GTR Home > Tests > Dyslipidemias / Early atherosclerosis

Overview

Test name

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Dyslipidemias / Early atherosclerosis

Purpose of the test

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

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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Qiagen QIAcube

Summary of what is tested

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

Genes

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

Guidance for management

Predictive risk information for patient and/or family members

How to order

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Order URL Help: http://www.healthincode.com/servicios/genetica-cardiovascular/paneles/dislipemias-y-aterosclerosis-especifico?locale=en_US

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

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.
  • Feldman et al., 2015
    Recommendations for the management of patients with familial hypercholesterolemia.
  • EAS, 2014
    Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
  • PLEF, 2014
    Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
  • Int'l FH Foundation, 2014
    Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • PLEF, 2013
    Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
  • NHFA, 2012
    INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
  • NLAEP, 2011
    Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
  • NICE, 2008
    Identification and management of familial hypercholesterolaemia
  • IPMFH, 2004
    Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

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