Information on the EQA test NGS: Molecular analysis of constitutional variants
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.
Performance interval
Once per year.
Procedure
The proficiency test comprises two cases:
- Task 1 (run 2026: Hearing impairment): 1 DNA sample (500ng, additional material can be provided if required)
- Task 2 (run 2026: myopathy): 1 variant table
The DNA is sent by post. The variant table will be available for download. A short anamnesis will be provided.
- Task 1 (run 2026: Hearing impairment): 1 DNA sample (500ng, additional material can be provided if required)
- Task 2 (run 2026: myopathy): 1 variant table
The DNA is sent by post. 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 relevant 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 the BVDH e. V., which is valid for two years.
EQA test supervisor
Dr. rer. nat. Hannah Rabenstein
MGZ - Medizinisch Genetisches Zentrum
Bayerstr. 3-5
80335 München
MGZ - Medizinisch Genetisches Zentrum
Bayerstr. 3-5
80335 München
Dr. rer. nat. Denny Schanze
Universitätsklinikum Magdeburg
Leipziger Str. 44, H. 1
39120 Magdeburg
If you would like to contact the EQA test supervisor(s), please call or e-mail the Coordination Office QA of BVDH:
Phone: +49 2403 83 80 54
E-mail: brandt@bvdh.de
Status as of: November/2025