Hajdu-Cheney Syndrome

For individuals with suspected Hajdu-Cheney Syndrome, DNA Sanger sequencing of the last exon of NOTCH2, exon 34, is available. Hajdu-Cheney Syndrome is very rare and all cases described so far have been due to clearly pathogenic variants in exon 34 of the NOTCH2 gene. If a pathogenic sequence variant is found, please contact the laboratory to discuss testing.
Synonyms or keywords: 
Hajdu-Cheney syndrome; HCS; HJCS; Acroosteolysis dominant type; Serpentine fibula polycystic kidney syndrome
Sample type and Volume required: 
3ml EDTA blood or 5 - 10ug genomic DNA
Turnaround time: 
No referrals reported within internal audit period July - September 2019.
Monogenics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 2582/1696
F: 020 7188 7273
E: dnadutyscientist@viapath.co.uk; gst-tr.viapathgeneticsoffice@nhs.net
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 11/10/2019