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Example clinical scenario

A three-month-old boy is admitted to a paediatric ward for assessment for developmental delay and global low tone. He is noted to have a murmur and an echocardiogram shows significant concentric left ventricular hypertrophy.

When to consider genomic testing

  • Consider genomic testing in a child if:
    • the cardiomyopathy has an onset of below 12 years old without a non-genetic explanation; or
    • the cardiomyopathy is the primary clinical presentation in an individual of any age and there is also a second condition, dysmorphism or other feature(s) suggestive of a syndromic cause such as a RASopathy (for example, Noonan syndrome).
  • Testing should be carried out in parallel with expert phenotypic assessment – for example, in an inherited cardiac conditions (ICC) clinic or specialist paediatric cardiomyopathy service – and with support from clinical genetics where appropriate.

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • If the relevant eligibility criteria are met, discuss the case with or refer it to your local ICC clinical service for genomic testing and family screening. You will need to provide details confirming that the patient fulfils the criteria.
  • If the patient fulfils diagnostic criteria as detailed in published guidelines that differ from the eligibility criteria in the test directory, it is appropriate to refer to an ICC clinic for further assessment.
  • For paediatric cardiomyopathy there are several available clinical indications, including the below.
  • In patients in whom cardiomyopathy is one of multiple features of dysmorphism and/or multiple congenital anomalies, consider referral to clinical genetics for assessment.
  • In some patients, a specific disease may be strongly suspected (for example, Barth syndrome), and isolated testing may then be appropriate.
  • For WGS-based tests, you will need to:
  • For tests that do not include WGS, you will need to:
    • complete a test order form and consent (RoD) form, available from your local Genomic Laboratory Hub; and
    • include details of the phenotype (refer to HPO terms or the clinical summary) as well as the appropriate panel name(s) with associated R number.
  • Tests above are DNA based, and an EDTA sample (purple-topped tube) is required.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 31/01/2024
  • Next review due: 31/01/2025
  • Authors: Dr Abigail Sharpe
  • Reviewers: Dr Amy Frost, Dr Juan Pablo Kaski, Dr Phil Ostrowski, Dr Claire Turner