GTR Home > Tests > Cardiomyopathy, familial hypertrophic type 6

Overview

Test order codeHelp: 226

Test name

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Cardiomyopathy, familial hypertrophic type 6

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what tested

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

Genes and variants

Clinical validity

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Many genes are involved in Cardiomyopathy, familial hypertrophic (HCM). For practically all genes, all types of mutations have been reported (missense, frameshift, nonsense, splice site, and small deletions and insertions). Centogene is offering NGS panel for molecular diagnostics of HCM, and number of single gene tests related to the same disease. Direct sequencing and deletion/duplication test were designed and developed at Centogene for the precise molecular diagnostics of HCM. When a mutation is identified, it is validated in an independent experiment by direct sequencing using a freshly prepared DNA dilution. The incidence of HCM is estimated that one in 500 individuals is phenotypically affected in the general population worldwide.There seems to be no clear differences in the HCM prevalence between different ethnicities. The two most frequently mutated genes are MYBPC3 and MYH7. Most of the HCM patients are heterozygous for a mutation, but in 3–5% of the cases, patients carry two mutations in the same gene (compound heterozygous or homozygous), or in different genes (digenic). In general, this is associated with a more severe phenotype with younger age of onset and more adverse events, suggesting a gene-dosage effect. Analytical specificity of the test is almost 100%, and clinical sensitivity can be dependent on variable factors such as age or family history. Many genes involved with mutation frequencies ranging between 30% and rare. On average, the mutation detection rate for the most obvious set of five candidates is about 56% (MYBPC3:20–30%; MYH7:20–30%; TNNT2:3–5%; TNNI3:3–5%; TPM1:1–3%).Furthermore, HCM has an age-related pentrance, that is depending on the individual mutation and/or the gene that is affected and is, in general, steadily increasing until advanced age. According to the Eurogentest and American Heart Association, if a pathogenic mutation is found in the index case and this mutation was not found in another family member, then this member has a <5% change of carrying another HCM-causing m

Citations

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Clinical utility

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Establish or confirm diagnosis

Citations
  • The diagnosis of HCM can be established based on the clinical finding of an increased ventricular wall thickness in the absence of arterial hypertension and/or valve disease. Owing to age-dependant penetrance, a negative clinical test does not exclude the possibility of developing HCM at a later age. When a disease-causing mutation is identified in the index patient, genetic testing can be offered to apparently healthy relatives within the family to determine whether they carry the same mutation and are at risk of developing the disease in the future. If the relative carries the mutation, then regular medical follow-up is required to detect early cardiac disease, and thereby improve their management. Specific advice to gene carriers might include restriction of physical activity, avoidance of specific careers, and reproductive counselling. If a relative does not carry the mutation then cardiological follow-up can be discontinued, provided that severity of the phenotype in any family me

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Clinical resources

Practice guidelines

  • 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).

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.

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