Deck 2

Question 1

What is chromosome microarray and what is it good for?

Answer 1

Mega FISH - good for detecting genetic deletions / duplications anywhere in the exome down to a few thousand kb. Doesn’t detect inversions, balanced translocations.

Question 2

What technique is best to detect snps of 1-10 bp?

Answer 2

next generation sequencing, PCR.

Question 3

What technique is best to detect deletions of a few hundred bps?

Answer 3

PCR

Question 4

What technique is best to locate a gene deletion of a few thousand bps?

Answer 4

southern blog.

Question 5

What technique is best for a deletion of 5-100K?

Answer 5

MLPA

Question 6

What techniques are best for detecting large deletions greater than 100k?

Answer 6

100,000 and above: chromosome microarray/SOMA
100,000 and above: FISH
5 MB and above: karyotype