NGS: Molecular analysis of constitutional variants
[NGS: Molekulare Analyse von konstitutionellen Varianten]
EPTIS factsheet 1353440 | Last revision 2025-04-23 | URL: https://www.eptis.bam.de/pts1353440 https://www.eptis.bam.de/pts1353440
| PT provider | |||||||||||||
| PT provider | Berufsverband Deutscher Humangenetiker e.V. Berufsverband Deutscher Humangenetiker e.V. | ||||||||||||
| Based in | Germany | ||||||||||||
| Language(s) | German, English | ||||||||||||
| Remarks | The EQA test is administered via www.bvdh-ringversuche.de; please register to get full access to further information. Aim: The aim of the EQA scheme is to offer an external quality assurance measure for NGS analyses that covers the requirements of RiliBÄK 2023. The EQA schemes cover the laboratory procedure, variant prioritization and classification, the preparation and interpretation of findings. Cases with annually changing clinical pictures will be offered. Procedure: The proficiency test comprises two cases: - Task 1: 1 DNA sample - Task 2: 1 variant table The DNA is sent by mail. The variant table will be available for download. A short anamnesis will be provided. Method: The laboratories should treat the samples as a diagnostic case, process them with their NGS workflow and prepare a report. Criteria: Correct result (detection or non-detection of pathogenic variants), classification of variants according to international standards, interpretation in relation to the clinical question. Certificate: After successful participation in this EQA scheme, participants receive a certificate from BVDH e. V., which is valid for two years. | ||||||||||||
| Keywords | |||||||||||||
| Product groups |
Human test material
|
||||||||||||
| Testing fields |
Medical analysis
|
||||||||||||
| Technical details | |||||||||||||
|
|||||||||||||
| Aims of the PT scheme | |||||||||||||
| Target group of participants | Laboratories which offer Next-generation sequencing in their diagnostic routine. No geographical restrictions to participation | ||||||||||||
| Linked to specific legislation / standards | |||||||||||||
| Additional, subsidiary aims | validation of testing methods | ||||||||||||
| Number of participants | 20 | ||||||||||||
| Accredited or otherwise reviewed by a 3rd party | |||||||||||||
| Operation is commissioned / requested by | Bundesärztekammer (RiliBÄK) | ||||||||||||
| Fees and frequency | |||||||||||||
| Participation fee | 400 euros net | ||||||||||||
| Regularly operated | Yes (Once per year) | ||||||||||||
| Year of first operation | 2023 | ||||||||||||
| Contact details of the PT provider | |||||||||||||
| Provider | Contact person | ||||||||||||
|
Berufsverband Deutscher Humangenetiker e.V.
Linienstraße 127 10115 Berlin Germany Phone: 030 55954411 Fax: 030 55954414 Web: https://www.bvdh-ringversuche.de https://www.bvdh-ringversuche.de |
Frau Susanne Brandt
Phone: 02403 838054 Fax: Email: brandt@bvdh.de brandt@bvdh.de |
||||||||||||
If you find any mistakes please contact the responsible EPTIS coordinator in Germany,
Mr Johannes van de Kreeke.
Mr Johannes van de Kreeke.