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
Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old