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GTR Home > Tests > TPM1 - NGS including CNV analysis


This is a clinical test intended for Help: Diagnosis

Clinical summary


Imported from OMIM

Familial hypertrophic cardiomyopathy-3 (CMH3) is an autosomal dominant disorder characterized by increased myocardial mass with myocyte and myofibrillar disarray (Thierfelder et al., 1994). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).

Clinical features


Imported from Human Phenotype Ontology (HPO)

  • Hypertrophic cardiomyopathy
  • Sudden cardiac death

Inheritance pattern


Autosomal dominant inheritance

Conditions tested

Target population


Not provided

Clinical validity


This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.


Not provided

Clinical utility


Not provided

Practice guidelines

  • EuroGenetest, 2011
    Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

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