Disease	Diagnostic	Prognostic	Therapeutic
HCM	+++	++	++

Recommendation	Consensus statement instruction	Ref.
For genetic testing in a proband with HCM (including those cases diagnosed post‐mortem), the initial tier of genes tested should include genes with definitive or strong evidence of pathogenicity (currently MYH7, MYBPC3, TNNI3, TPM1, MYL2, MYL3, ACTC1, and TNNT2).		10
For genetic testing in a proband with HCM, the initial tier of genes tested may include genes with moderate evidence of pathogenicity (CSRP3, TNNC1, JPH2).		10 , 310, 311, 312, 313, 314
In patients with HCM, genetic testing is recommended for identification of family members at risk of developing HCM.		315, 316, 317, 318
In patients with atypical clinical presentation of HCM, or when another genetic condition associated with unexplained hypertrophy is suspected (e.g. HCM phenocopy) genetic testing is recommended.		10 , 253 , 308 , 319, 320, 321, 322, 323, 324
Predictive genetic testing in related children is recommended in those aged >10–12 years.		82 , 85 , 318
In patients with HCM who harbour a variant of uncertain significance, the usefulness of genetic testing of phenotype‐negative relatives for the purpose of variant reclassification is uncertain.		10 , 315 , 325
Predictive genetic testing in related children aged below 10–12 years may be considered, especially where there is a family history of early‐onset disease.		82 85
In patients with HCM who harbour a variant of uncertain significance, testing of affected family members for the purpose of variant classification may be considered.		Expert opinion
For patients with HCM in whom genetic testing found no LP/P variants, cascade genetic testing of family relatives is not recommended.		10 , 315, 316, 317 , 325
Ongoing clinical screening is not recommended in genotype‐negative relatives in most families with genotype‐positive HCM		10 , 315 , 316 , 325