Clinical Indication ID & Name
Paediatric or syndromic cardiomyopathy
Test Group
Cardiology
Specialties
Test code
R135.2
Test name
Paediatric or syndromic cardiomyopathy
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: 1. Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (1-7µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). 2. Bone marrow sample in EDTA tube, cell count must be provided. 3. Cultured Fibroblasts in medium 4. Fresh tissue with at least 30% tumour cell content: Adequate sample sizes include 5mm x 5mm x 2mm tissue or 15mm x 2mm needle core biopsy. Multiple biopsies recommended if clinically feasible. Tissue should be embedded in OCT or preserved in RNA Later where appropriate 5. Extracted DNA , 1 μg to 7.2 μg depending on WGS pathway. Storage, sample packing and transportation: Blood and bone marrow samples should be stored at 4°C whenever possible and sent at room temperature via first-class post or courier. Tissue samples preserved in RNA Later can be shipped at room temperature, while fresh tissue samples must be shipped on ice/dry ice. All samples should arrive at the laboratory within 24 hours of collection. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.