WS: Case Studies

Question 1

What techniques could you use to determine the size of a deletion?

Answer 1

• High resolution SNP array
• MLPA
• NGS

Question 2

Blood test for MD:

Answer 2

• Creatine kinase (expecting high level in DMD patients as a result of muscle breakdown)
• Can also take a biopsy and assess dystrophin content

Question 3

How does MLPA work?

Answer 3

• Uses pair of probes to detect specific sections of the genome -> mainly used to detect exon-level copy number variation