Gene Testing
Genetic analysis in FA in general involves first determining which one of thirteen genes described to date is affected (‘complementation group analysis’) and then going on to identify the specific mistake in each of the two copies of the affected gene (by gene sequencing/mutation analysis).
We recommend that complementation group analysis is performed in the first instance prior to mutation analysis as this facilitates subsequent mutation analysis, including reducing result turnaround time and cost.
The details of complementation group analysis and mutation analysis are described in the relevant medical literature with specific approach varying between laboratories.
Complementation Group Analysis
There is currently no UK provider of complementation group analysis. Complementation group analysis can be obtained through Prof Hans Joenje, Institute of Human Genetics,Free University, Van der Boechorststraat 7, NL-1081 BT, Amsterdam, The Netherlands +31-20-444-8270.
Gene Sequencing/Mutation Analysis.
Mutation analysis is now available in the UK at the Sheffield Diagnostic Genetics Service at Sheffield Children’s Hospital. A referral information sheet and a ‘service letter’ for clinicians further detailing the FA gene testing service provided by the Sheffield Diagnostic Genetics Service are given below:
- Referral Information for Fanconi Anaemia (FA) FANCA , FANCC and FANCD1 gene testing (document download)
- Service Letter for Clinicians
- More information about the Sheffield Genetic Testing Service
Other providers of FA gene testing outside the UK
- These can be found in the FARF Fanconi Anaemia Treatment and Resource Guide 2008
UK Genetic Testing Network
- UKGTN
- Supporting Genetic Testing in the NHS: UKGTN SECOND REPORT Nov 2010
