Competency information
Details
Prepare a range of full and accurate reports relevant to the referrals for testing of neuromuscular disorders.
Considerations
- How to recognise all tests have been completed to a satisfactory standard for the referral reason.
- All information has been validated as correct.
- Selection of correct report template for referral reason.
- Recommendations for further referral (e.g. clinical genetics). Identify the requirements for any follow up testing, the testing methods available and the appropriate choice of test. Describe any limitations.
- Use of correct scientific terminology.
- Communication of complex scientific information to clinicians and patients.
- Best practice guidelines compared with laboratory practice and any differences between the two.
- How to identify pertinent EQA schemes; their role and practice, how these are incorporated into laboratory practice and ISO standards for lab participation in EQA schemes.
- The calculation of residual probability following molecular testing where appropriate.
- Use of relevant databases and literature in the interpretation of results.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 4 | Outcome Investigate the clinical significance of variants using a range of bioinformatics tools, following current best practice guidelines. |
| # 5 | Outcome Interpret and report a range of genetic and genomic testing relevant to paediatric conditions, including the results of diagnostic testing which should encompass appropriate recommendations for patient management. |