Information on the EQA test Molecular Karyotyping (formerly: Array Diagnostics)
Aim
Aim of this interlaboratory testing is the evaluation of the technical performance of array diagnostics as well as the data analysis, the reporting and the interpretation of the results in order to improve the daily laboratory routine.
Performance interval
Once per year.
Procedure
Either two DNA samples along with the clinical information of fictional patients are sent to the laboratories or one DNA sample plus the array data of a case with specific questioning is supplied. At the beginning of the EQA test, all relevant data concerning deadlines for application and participation, dispatch of samples and certificates will be provided on www.bvdh-ringversuche.de.
Method
The array diagnostics should be performed according to the laboratory's own standard operation procedures. The diagnostic report which comprises the result of the array analysis as well as the interpretation regarding the specific indication should be submitted to www.bvdh-ringversuche.de.
Since 2025, the molecular karyotyping EQA test has also been opened up for the NGS method for detecting CNVs as part of a pilot interlaboratory test. The EQA test is not yet accredited according to DIN EN ISO/IEC 17043 for this molecular genetic method.
Since 2025, the molecular karyotyping EQA test has also been opened up for the NGS method for detecting CNVs as part of a pilot interlaboratory test. The EQA test is not yet accredited according to DIN EN ISO/IEC 17043 for this molecular genetic method.
Criteria
Qualitative and quantitative accuracy of the array results considering specific array thresholds and the correct interpretation regarding the indication.
Certificate
A certificate will be provided which states whether the criteria were met and participation was successful. The certificate is valid for two years.
EQA test supervisor
Dr. med. Ina Schanze
Otto-von-Guericke-Universität Magdeburg, Institut für Humangenetik
Leipziger Straße 44
39120 Magdeburg
Otto-von-Guericke-Universität Magdeburg, Institut für Humangenetik
Leipziger Straße 44
39120 Magdeburg
Sonja Dahlum
Universitätsklinikum Ulm, Institut für Humangenetik, Molekulargenetisches und zytogenetisches Labor
Albert-Einstein-Allee 11
89073 Ulm
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: August/2025