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.
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.