RV-Online
Login
Order

Molecular Genetics 28 - CFTR Common Mutations (778)

Samples:
2 samples of 40 µl
Sample properties:
DNA in Tris-Buffer
Price Per Test:
193,00 Euro
Volume Price (from 2 EQAS):
159,00 Euro
These prices apply exclusively to orders placed through INSTAND e.V. For orders placed through distributors, prices and services may differ.

Dates:

Registration deadline:

Sample shipment:

Closing Date:

May (3) Nov. (6)
23.02.2024 09.08.2024
23.04.2024 08.10.2024
24.05.2024 08.11.2024
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 28 most common variants detected by standard screening methods will be tested. Participants analyzing the complete CFTR gene (Sanger, NGS, MLPA) are welcome to report back any detected variants that they classify as VUS, likely pathogenic or pathogenic according to ACMG.
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@medizin.uni-leipzig.de