{"id":2063,"date":"2025-05-20T13:13:37","date_gmt":"2025-05-20T13:13:37","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2063"},"modified":"2026-02-22T01:10:58","modified_gmt":"2026-02-22T01:10:58","slug":"contemporary-practice-and-resource-availability-for-genetic-testing-in-paediatric-hypertrophic-cardiomyopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/05\/20\/contemporary-practice-and-resource-availability-for-genetic-testing-in-paediatric-hypertrophic-cardiomyopathy\/","title":{"rendered":"Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy (Contributed by Dr. Christoph Sandmann)"},"content":{"rendered":"

Genetic causes of paediatric-onset hypertrophic cardiomyopathy (HCM) may be more diverse than in adults. To explore current practices and resource availability for genetic testing in paediatric HCM, we surveyed centres in the International Paediatric Hypertrophic Cardiomyopathy Consortium (IPHCC). Important findings show broad access to genetic testing among expert centres following recent guideline changes, but highlight variation in testing strategies, particularly in gene panel size and the use of whole genome\/exome sequencing. Access to pre-test counselling also varied. Evidence-based recommendations for best practice of genetic testing in children with cardiomyopathies may be helpful to ensure resource-efficient and standardized clinical decision making. (https:\/\/jmg.bmj.com\/content\/early\/2025\/05\/16\/jmg-2025-110696<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Genetic causes of paediatric-onset hypertrophic cardiomyopathy (HCM) may be more diverse than in adults. To explore current practices and resource availability for genetic testing in paediatric HCM, we surveyed centres in the International Paediatric Hypertrophic Cardiomyopathy Consortium (IPHCC). Important findings show broad access to genetic testing among expert centres following recent guideline changes, but highlight […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2063","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nContemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy (Contributed by Dr. Christoph Sandmann) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/05\/20\/contemporary-practice-and-resource-availability-for-genetic-testing-in-paediatric-hypertrophic-cardiomyopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy (Contributed by Dr. Christoph Sandmann) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genetic causes of paediatric-onset hypertrophic cardiomyopathy (HCM) may be more diverse than in adults. 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