Competency: 1

Details

Select the correct genetic test(s) for samples from patients referred with learning disability.

Considerations

• The principal referral reasons that would indicate testing for each of the conditions under investigation.
• The clinical and scientific basis for the repertoire of genetic testing available to investigate the common range of clinical referrals.
• Ethical issues associated with patient consent.
• The clinical utility of genetic testing in patients with learning disabilities.
• The overlapping and complex testing pipelines where patients referred with learning disability will often sit.
• This analysis in the context of any previous genetic testing for the patient.
• The use of this test for other referral reasons (e.g. FRAX).
• How to recognise the implications of genetic mosaicism in this group of patients.

Relevant learning outcomes