Information on the Ring Trial 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.

Ring trial management

PD Dr. rer. nat. Barbara Fritz
Zentrum für Humangenetik
Baldingerstraße
35043 Marburg
Tel. 06421 5862986
Fax
fritzb@uk-gm.de

Dr. rer. physiol. Ilona Dietze-Armana
genetikum Neu-Ulm
Wegenerstr. 15
89231 Neu-Ulm
Tel. +49 731 98 49 00
Fax +49 731 9 84 90 20
dietze-armana@genetikum.de