CF Exam Question Flashcards
1
Q
What are the most common CF mutations other than delta508 and their relative %
A
2
Q
List the detection methods for CF
A
3
Q
What does ARMS stand for?
A
Amplification Resistant mutation system
4
Q
What does SSCP stand for?
A
Single stranded confirmation polymorphism analysis
5
Q
Relevant exons in Cf
A
11 and 13
6
Q
What does ACMG stand for?
A
American College of Medical Genetics
7
Q
What are the two targeted ngs sequencing kits for cf
A
Illumina MiSeq Dx
Devyser CFTR NGS panel
8
Q
How many variants can illumina miSeqDx detect
A
139
In 48 patients at once
9
Q
How many variants can Devyser CFTR NGS panel detect?
A
100% of mutations
In 96 patients simultaneously
