Genetic testing

Question 1

Best approach for single genes

Answer 1

Sanger sequencing

Question 2

Limitations of Sanger sequencing

Answer 2

could lead to false negatives.

Condition may involve multiple genes

May not be involving a spelling issue (may not detect deletions or duplications)

Mutations may lie under a primer site

Time consuming

Question 3

Next gen, or multi panel

Answer 3

example, some hearing loss disorders can involve multiple genes

Question 4

Multi gene panel limitations

Answer 4

creates more uncertainty

“negative” does not mean that a condition is not genetic

Question 5

A genotype does not always give an answer to a disorder

Answer 5

true

Question 6

Broad term

Answer 6

ways to look for presence or absence of common genotypes

Question 7

Exam sequencing won’t detect

Answer 7

Entire exome

Large del/dup

Mitochondrial genes

Trinucleotide repeats

uniparental disomy

epigenetics (methylation)