Competency: 6

Details

Perform a basic dosage analysis using chromosomal microarray.

Considerations

• Correct nomenclature for description of any copy number changes.
• Principles and applications of relevant methods and techniques.
• The principles of chromosomal microarray.
• The significance of sensitivity and limitations of technique.
• Relevant current quality control procedures and characteristics of substandard results.
• Factors affecting the integrity of samples and reagents, and contamination.
• The nature and effect of possible artefact.
• Use of appropriate analytical software and clinically interpret findings.

Relevant learning outcomes