Information on the EQA test Structural analysis
Aim
Identification of structural chromosomal aberrations (pre- and postnatal) for a given preparation quality and their interpretation in respect to the clinical context.
Performance interval
Once per year.
Method
Case 1: Online images (karyograms and mitoses) and a corresponding clinical case description are made available. The participants will prepare a report of the findings analogous to routine diagnostics.
Case 2: Online images (karyograms and mitoses including FISH images and a corresponding clinical case description) are made available. The participants ascertain the corresponding karyotype formula according to the current ISCN and answer questions about the nomenclature.
Criteria
Technical criteria: Identification of the correct chromosome aberration including region, breakpoints, karyotype formula according to recent ISCN.
Interpretative criteria: According to the S2 guideline: classification of the result in relation to the indication, structured specification of further examinations, recommendation for genetic counselling/family examination/prenatal diagnostics.
Knock-out criterion:
Case 1: The non-identification of the visible chromosomal aberration leading to a serious misinterpretation is evaluated with 0 marks and will result in poor performance.
Case 2: The non-identification of the visible chromosome aberration leading to a serious misinterpretation is evaluated with 0 marks and will result in poor performance.
Certificate
A certificate is issued according to the above criteria, which is valid for two years. Participants who do not fulfil these criteria will receive a confirmation of participation.
EQA test supervisor
PD Dr. rer. nat. Barbara Fritz
UKGM Standort Marburg, Zentrum für Humangenetik
Baldingerstraße 14
35033 Marburg
UKGM Standort Marburg, Zentrum für Humangenetik
Baldingerstraße 14
35033 Marburg
Dr. rer. physiol. Ilona Dietze-Armana
MVZ genetikum GmbH
Wegenerstr. 15
89231 Neu-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: July/2019