Aim of this module
This module will provide the trainee with knowledge and understanding of the role and application of genetic and genomic testing in the diagnosis and management of paediatric patients with rare inherited diseases, including the implications for other family members.
The content for this module will focus on (as exemplars): newborns who present as dysmorphic, failure to thrive, ambiguous genitalia or who are hypotonic. those patients who have a clinical suspicion of Duchenne muscular dystrophy, spinal muscular atrophy, Prader-Willi and Angelman syndrome, fragile X syndrome, myotonic dystrophy, cystic fibrosis, disorders of sexual differentiation, children with developmental delay or delayed puberty.
|Number||Work-based learning outcome||Title||Knowledge|
Select the correct genetic test(s) for samples from patients referred with learning disability.
Perform and interpret whole genome analysis from patients with learning disabilities.
Select an appropriate reflex test and the interpretation within the context of the primary analysis.
Perform the analysis and interpretation of genomic dosage and targeted analysis for the detection of genome anomalies associated with learning disability.
Interpret results from methylation studies for PWS/AS syndrome.
Prepare full and accurate interpretative clinical reports for patients referred with learning disabilities.
Select the correct genetic tests for patients referred with a suspected neuromuscular disorder.
Perform dosage analysis on a patient sample referred for DMD or SMA and analyse the result of molecular testing using appropriate software.
Perform simple Bayesian analysis to calculate carrier probability in BMD/DMD and SMA.
Prepare a range of full and accurate reports relevant to the referrals for testing of neuromuscular disorders.
Perform a PCR-based test to detect common CFTR mutations.
Prepare a range of full and accurate interpretative clinical reports for paediatric patients referred for Cystic Fibrosis testing.
|You must complete|
|3 Case-based discussion(s)|
|3 of the following DOPS / OCEs|
|Bisulphite modification and PCR to detect methylation||DOPS|
|FISH analysis using microscopy||DOPS|
|Processing samples for FISH||DOPS|
|Karyotype by image analysis||DOPS|
|Microarray analysis for a patient referred with learning disability||DOPS|
|Analyse results of MLPA analysis||DOPS|
|Interpret and report MLPA data||DOPS|
|Sample preparation for array analysis||DOPS|
|Use bioinformatics tools to interpret clinical significance of array result||DOPS|
|Analyse the results of CF testing||DOPS|
|Perform laboratory set up of CF test||DOPS|
|PCR amplification of a triplet repeat||DOPS|
|Analyse results of FMR1 gene analysis||DOPS|
|Perform basic risk calculation||DOPS|
|Prepare a clinical report for a paediatric patient referred with learning disability||DOPS|
|Prepare a clinical report for a paediatric patient referred for cystic fibrosis||DOPS|
|Prepare a clinical report for a paediatric patient referred with a neuromuscular disorder||DOPS|
|Participate in an MDT meeting with other healthcare professionals||OCE|
|Take a patient history can be undertaken in virtual patient environment||OCE|
|Discuss patient results with a healthcare professional telephone or in person||OCE|
The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.