Genetic tests

Question 1

To see if a mutation is absent or present

Answer 1

Allele specific PCR

Question 2

Determine point mutation

Answer 2

Oligonucleotide ligation assay

Question 3

Copy number changes

Answer 3

MLPA
FISH
qPCR (if FISH unsuitable)
Microarray CGH (genome wide screen)

Question 4

If can’t use PCR to detect a known sequence (because strand is too long or GC rich)

Answer 4

Southern Blotting

Question 5

Detect an unknown mutation

Answer 5

DNA sequencing (clonal)

Question 6

Blotting test used for protein

Answer 6

Western

Question 7

Blotting test used for RNA

Answer 7

Northern

Question 8

Blotting test used for DNA

Answer 8

Southern

Question 9

Which patients are tested for a copy number change?

Answer 9

Learning disabilities
Low IQ
Dysmorphic
Autism spectrum

Question 10

To detect prenatal aneuploidy

Answer 10

Quantitative fluorescent PCR

Question 11

Tumours

Answer 11

FISH

Question 12

Chromosomal abnormalities such as translocation

Answer 12

G-banding