
EQA Scheme
Contact
Molecular Genetics 28 - CFTR Common Mutations (778)
Samples:
2 samples of 40 µl
Sample properties:
DNA in Tris-Buffer
Price Per Test:
Price upon request
Dates:
Registration deadline:
Sample shipment:
Closing Date:
May (3) | Nov. (6) |
---|---|
28.02.2025 | 08.08.2025 |
29.04.2025 | 07.10.2025 |
30.05.2025 | 07.11.2025 |
Shipping Information:
Shipping at ambient temperature
Parameters:
CFTR gene
Certificate Validity:
24 months
Safety Note:
Process as patient sample material
Additional Information:
CFTR gene (NM_000492.4).</br>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. 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.
Link to list of mutations: www.instand-ev.de/cftr-mandatory-mutations
EQAS Expert:
PD Dr. rer. nat. Julia Hentschel
Institut für Humangenetik
Universitätsklinikum Leipzig AöR
Philipp-Rosenthal-Str. 55
04103 Leipzig
+49 341 97 11349
julia.hentschel@instand-ringversuch.de
MSc. Simone Ahting
Institut für Humangenetik
Universitätsklinikum Leipzig AöR
Philipp-Rosenthal-Str. 55
04103 Leipzig
+49 341 97 20596
simone.ahting@medizin.uni-leipzig.de