Molecular Genetics 28 – CFTR Common Mutations (778)
[Molekulargenetik 28 - CFTR Common Mutations (778)]
EPTIS factsheet 159161 | Last revision 2025-11-21 | URL: https://www.eptis.bam.de/pts159161 https://www.eptis.bam.de/pts159161
| PT provider | ||||||||||||||||
| PT provider | INSTAND e.V., Society for Promoting Quality Assurance in Medical Laboratories INSTAND e.V., Society for Promoting Quality Assurance in Medical Laboratories | |||||||||||||||
| Based in | Germany | |||||||||||||||
| Language(s) | German, English | |||||||||||||||
| Remarks | 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. The interdisciplinary, non-profit, scientific and medical association INSTAND e. V. is a reference institution for the quality control of medical laboratories. It is one of four German reference institutions responsible for the organization of external quality assessment (EQA) schemes for quality control in medical laboratories. You can register for EQAs, submit your results and later download your evaluation documents via https://rv-online.instandev.de. The price on our website apply exclusively to orders placed via INSTAND e.V. Prices and services may differ for orders placed via distributors. Our newest EQA program can also be found on our website: https://www.instand-ev.de/en/instand-eqas/eqa-program/ | |||||||||||||||
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| Product groups |
Human test material
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| Testing fields |
Medical analysis
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| Linked to specific legislation / standards | ||||||||||||||||
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| Number of participants | 50 - 100 | |||||||||||||||
| Accredited or otherwise reviewed by a 3rd party |
Accredited by DAkkS (Germany) on the basis of ISO/IEC 17043 German Bundesärztekammer (General medical Council) |
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| Operation is commissioned / requested by | German Bundesärztekammer (General medical Council) | |||||||||||||||
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| Participation fee | ||||||||||||||||
| Regularly operated | Yes (2 times per year) | |||||||||||||||
| Year of first operation | Experience with operation of ILCs since 1968 | |||||||||||||||
| Contact details of the PT provider | ||||||||||||||||
| Provider | Contact person | |||||||||||||||
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INSTAND e.V., Society for Promoting Quality Assurance in Medical Laboratories
P.O.Box 250211, Ubierstrasse 20 40223 Düsseldorf Germany Phone: +49-211-159213-0 Fax: Web: http://www.instandev.de/ http://www.instandev.de/ |
Dr. rer. nat. Nathalie Weiss
Phone: +49-211-159213430 Fax: Email: weiss@instand-ev.de weiss@instand-ev.de |
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