Molecular Genetics - CFTR Common Mutations (778)

Campioni:

2 samples of 40 µl

Proprietà campione:

DNA solution

Informazioni sulla spedizione:

Shipping at ambient temperature

Parametri:

CFTR gene ACMG classification Interpretation of results

Validità del certificato:

12 months

Avviso di sicurezza:

Process as patient sample material

Informazioni aggiuntive:

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.

Esperto EQAS: