Molecular Genetics - CFTR Common Mutations (778)

Samples:

2 samples of 40 µl

Sample properties:

DNA solution

Price Per Test:

Price upon request

Shipping Information:

Shipping at ambient temperature

Parameters:

CFTR gene ACMG classification Interpretation of results

Certificate Validity:

12 months

Safety Note:

Process as patient sample material

Additional Information:

CFTR gene (NM_000492.4). The 34 most common variants detected by standard screening methods will be tested. Participants must be able to identify at least the 34 most common variants. See here for a list of mandatory mutations: www.instand-ev.de/cftr-mandatory-mutations Exception: Participants who only test the 31 variants of the child guidelines for CF. These participants are requested to communicate this in the comment field. Participants who only test for F508del cannot participate in this EQA scheme. Participants who analyze the complete CFTR gene are also welcome to participate. These participants please communicate variants that are not among the 34 most common variants via the comment field. Participants are asked to comment on the possibility of CFTR modulator therapy.

EQAS Expert: