Clinical Indication ID & Name
Paediatric or syndromic cardiomyopathy
Test Group
Cardiology
Specialties
Test code
R135.2
Test name
N/A
Target genes
Cardiomyopathies - including childhood onset (749)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
1. Cardiomyopathy of onset <12 years with no non-genetic explanation, OR 2. Individuals of any age with cardiomyopathy as their primary clinical presentation, where there is also a second condition, dysmorphism or other feature(s) suggestive of a syndromic cause such as a Rasopathy. Testing should be carried out in parallel with expert phenotypic assessment, for example in an Inherited Cardiac Clinic (ICC) or specialist paediatric cardiology service, including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an ICC MDT.
Commissioning group
Specialised
Overlapping idications
In individuals where cardiomyopathy is one of multiple features of a likely multisystem disorder R27 Congenital malformation and dysmorphism syndromes - likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used to enable testing of broader targets and familial testing where available Specific cardiomyopathy categories R131, R132 or R133 should be used where features are typical of non-syndromic hypertrophic, dilated or arrhythmogenic cardiomyopathy in individuals over the age of 12
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form