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Cytogenetic Resources 
  Chromosome anomaly collection
Microdeletion/duplication collection
Probe bank and key locus service
Scale of charges for NLS FISH tests
Key locus service FISH probes
Specific locus requests
Rare micro deletion testing via WRGL
Examples of NGRL FISH tests reported to date
The sub-telomeric collection
Home > Resources > Probe bank > Microdeletion testing
Probe bank and key locus service

 Rare microdeletion-syndrome testing already available via WRGL

Reference Syndrome Gene* Cytogenetic Location
PubMed ID:10699051 Rubinstein-Taybi Syndrome

CREB

 16p13.3
PubMed ID:12386836 Aniridia/WAGR PAX6/WT1* 11p13

*PAX6 mutation testing is now available at the WRGL. Contact Dr J. Crolla or Dr D Robinson for further details.

 

 

 

 

 

 

 

 

 

 

 

 

 
Last Updated: 17 July, 2008 by G. Watkins.
 
© 2006 National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ; Tel: +44 (0)1722 429080; E-mail:ncpc@soton.ac.uk