Ordina
Molecular Genetics 28 - CFTR Common Mutations (778)
Campioni:
2 samples of 40 µl
Proprietà campione:
DNA in Tris-Buffer
Date:
Termine di registrazione:
Spedizione del campione:
Data di chiusura:
May (3) | Nov. (6) |
---|---|
28.02.2025 | 08.08.2025 |
29.04.2025 | 07.10.2025 |
30.05.2025 | 07.11.2025 |
Informazioni sulla spedizione:
Shipping at ambient temperature
Parametri:
CFTR gene
Validità del certificato:
24 months
Avviso di sicurezza:
Process as patient sample material
Informazioni aggiuntive:
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
Esperto EQAS:
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