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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