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Learning outcome |
Title |
Knowledge |
1 |
1 |
Select the correct genetic test(s) for samples from patients referred with learning disability. |
- 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.
|
2 |
2,4,5 |
Perform and interpret whole genome analysis from patients with learning disabilities. |
- The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- How to identify and describe the potential for error, how this is mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
- Clinical and scientific aspects of chromosome disorders.
- The use of digital, light and fluorescent microscopy.
- The use of ISCN.
- Internal and external quality assurance (QA) for chromosome analysis.
- Local laboratory procedures for recording results of chromosome analysis.
- How to critically appraise relevant literature and databases.
- The need for further genetic testing, e.g. fluorescence in situ hybridisation (FISH), chromosomal mircroarrays.
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3 |
1,3,4,5 |
Select an appropriate reflex test and the interpretation within the context of the primary analysis. |
- The added value of targeted analysis (e.g. FISH, MLPA etc.)
- The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- How to identify and describe the potential for error, how this is mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
|
4 |
2,3,4,5 |
Perform the analysis and interpretation of genomic dosage and targeted analysis for the detection of genome anomalies associated with learning disability. |
- The technical pathway including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- Validation and verification of findings.
- How to identify and describe potential for error, how is this mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
- Microarray data analysis and the use of relevant software.
- Interpretation and classification of Copy Number Variation (CNVs) according to best practice guidance.
- The added value of referring for further testing.
- The counselling issues (e.g. incidental findings).
|
5 |
3,5 |
Interpret results from methylation studies for PWS/AS syndrome. |
- The technical procedure including its limitations and sensitivities, the essential requirement for good laboratory practice and the risks.
- Identify and describe potential for error, how is this mitigated and its potential effects.
- Best practice guidelines compared with laboratory practice and any differences between the two.
- Internal quality parameters and use of interpretive software where applicable.
- MLPA methodology for the assessment of methylation status.
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6 |
4,5 |
Prepare full and accurate interpretative clinical reports for patients referred with learning disabilities. |
- 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 and clinical terminology.
- Use of relevant databases and the literature in the interpretation of results.
- 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.
|
7 |
1,3,4,5 |
Select the correct genetic tests for patients referred with a suspected neuromuscular disorder. |
- The range of tests suitable for patients presenting with particular neuromuscular symptoms.
- The genetic alterations and genes responsible for a range of neuromuscular disorders, e.g. B/DMD, DM and SMA.
- The range of genetic testing relevant to diagnostic and carrier/predictive testing for neuromuscular disorders.
- The distinction between in-frame and out of frame dystrophin mutations and the ability to interpret B/DMD testing results appropriately.
- The use of linkage analysis (B/DMD and SMA) and the ability to evaluate the risks of recombination.
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8 |
3,4,5 |
Perform dosage analysis on a patient sample referred for DMD or SMA and analyse the result of molecular testing using appropriate software. |
- Principles of the techniques, including limitations and sensitivity.
- Internal and external quality control.
- The quality parameters for the test.
- Use of suitable analysis software.
- How to recognise samples that require repeat testing or that have failed testing.
- Accurate recording of results of analysis following local laboratory protocols.
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9 |
5 |
Perform simple Bayesian analysis to calculate carrier probability in BMD/DMD and SMA. |
- The importance of accurate pedigree construction.
- Calculation of an a priori and a posterior risk to an individual in a pedigree of being affected with a disorder.
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10 |
4,5 |
Prepare a range of full and accurate reports relevant to the referrals for testing of neuromuscular disorders. |
- 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.
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11 |
3 |
Perform a PCR-based test to detect common CFTR mutations. |
- Principles of the technique, including limitations and sensitivity.
- Internal and external quality control.
- The quality parameters for the test.
- Use of suitable analysis software.
- How to recognise samples that require repeat testing or that have failed testing.
- Accurate recording of results of analysis following local laboratory protocols.
|
12 |
4,5 |
Prepare a range of full and accurate interpretative clinical reports for paediatric patients referred for Cystic Fibrosis testing. |
- 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 and clinical terminology.
- Use of relevant databases and literature in the interpretation of results.
- 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.
- Implication of a positive result for other family members.
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