Skip to main content
Public beta This website is in public beta – please give your feedback.

Example clinical scenario

You see a three-year-old child with speech delay in clinic, accompanied by their parents. The child is otherwise fit and healthy, with normal gestation, birth and medical history. You perform a thorough physical and neurological examination, the findings of which are normal. You request an audiological assessment, and the results from the audiogram reveal bilateral sensorineural deafness.

When to consider genomic testing

  • Genomic testing should be considered in cases of confirmed bilateral non-syndromic hearing loss with a possible monogenic cause (that is, there is no alternate explanation).
  • In cases of confirmed unilateral non-syndromic hearing loss, genomic testing should be considered if there is also a family history of bilateral or unilateral hearing loss consistent with a monogenic cause (often suggested by audiograms).

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria, which provides 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.
  • Decide which of the panels best suits the needs of your patient or family. For non-syndromic hearing loss, there are a number of available panels, including:
  • These tests do not include whole genome sequencing (WGS), therefore:
    • parental samples may be needed for interpretation of the child’s (proband’s) result. Parental samples can be taken alongside that of the child, and their DNA stored, or can be requested at a later date if needed.
  • These tests 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

↑ Back to top
  • Last reviewed: 30/04/2024
  • Next review due: 30/04/2025
  • Authors: Dr Maria Gogou
  • Reviewers: Dr Rhys Dore, Dr Eleanor Hay, Dr Sebastian Hendricks, Dr Emile Hendriks