Competency: 1

Details

Select the correct genetic test(s) for the patient samples referred for adult conditions using the following exemplars:

• Hypertrophic and dilated cardiomyopathies
• Huntington disease
• Fragile X (FRAXA)
• Friedreich ataxia (FA)
• Cystic fibrosis
• CMT1A/HNPP

Considerations

• The principal referral reasons that would indicate testing for each of the conditions under investigation.
• The clinical, scientific basis for the repertoire of genetic testing available to investigate the common range of clinical referrals.
• Ethical issues associated with patient consent including predictive testing.
• The need for consent before testing and the implications for relatives following a positive test result.
• The use of this test for other referral reasons (e.g. FRAXA).
• The clinical utility of genetic testing in patients with infertility, neurogenetic and/or cardiomyopathy.
• The range of tests suitable for patients presenting with or having a family history of particular neurological or muscular symptoms (e.g. muscle weakness, myotonia, chorea, foot drop).
• The genetic alteration/genes associated with a range of adult onset neurological and muscular disorders (e.g. HD, FA).
• The need for pre and post-test counselling for individuals undergoing predictive (e.g. for HD) and carrier (e.g. Friedreich ataxia) testing.
• The utility of Next Generation Sequencing for this group of patients.

Relevant learning outcomes