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

Dr. rer. physiol. Ilona Dietze-Armana
genetikum Neu-Ulm
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