Directory of tests
For more information on prices, please contact the West Midlands Regional Genetics Laboratory:
- +44(0)121 335 8036
- bwc.genetics.lab@nhs.net
For referral information, please see the West Midlands Regional Genetics Laboratory page.
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Cowden syndrome
Cowden syndrome
PTEN harmartoma tumour syndrome (PHTS)
The PTEN hamartoma tumour syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome.
TESTING STRATEGY
Automated sequence analysis of the promoter region and exons 1 to 9 of the PTEN gene, followed by MLPA analysis of the PTEN gene if no pathogenic mutations are identified.
SAMPLE REQUIREMENTS & REPORTING TIME
5-10ml blood in EDTA or DNA
8 weeks for mutation screen
2 weeks for testing for a known mutation
3 working days for prenatal diagnosis, available by prior arrangement. Please contact the laboratory.