| TSC Genetic Testing Laboratory opened |
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 ATSS has collaborated with The Sydney Children’s Hospital and South Eastern Area Laboratory Services (SEALS) to develop gene testing for Tuberous Sclerosis Complex (TSC) in Australia. Gene testing will take some of the uncertainty out of life with TSC. When someone in the family is diagnosed with TSC the current practice is to screen parents by skin examination, brain and kidney scans to see if they also have TSC. Gene testing for TSC can provide a definitive result, helping family members make informed decisions about having children. Please see the press release for more information on the genetic testing facility. Funding: We need your help
Getting involved: Blood donations SEALS laboratory is requesting blood samples in order to set up and validate their diagnostic methods. As part of this process, mutation analysis of the two known TSC genes will be available free of charge during the validation period (50 samples). During this first stage, the laboratory wants blood samples from persons affected with TSC only. In families where there are multiple affected family members only one sample per family is necessary. It is expected that a gene fault will be identified in about 80 to 85 % of DNA samples in this group. As part of the counselling process, a consent form will need to be signed before the sample can be processed through one of the NSW genetic services. This service will be available to families throughout Australia and New Zealand once the validation process is complete (planned 1-2 years). |
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