GTR Home > Tests > Cardiomyopathy, familial hypertrophic type 4

Overview

Test order codeHelp: 174

Test name

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Cardiomyopathy, familial hypertrophic type 4

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
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

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 mutation. If the patient has a clinical diagnosis of HCM he/she has a >90% chance of having a genetic mutation. Therefore, the chance that another family member will develop HCM once in his/her life will be close to 50%. Thus, the importance of gene test for HCM is high, as well as the impact of the patient´s health status and life quality.

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Clinical utility

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Not provided

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

Practice guidelines

  • 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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