Invitae Corporation is a diagnostic testing company whose mission is to make genetic testing more widely accessible and affordable, especially to individuals with a rare disease who often face difficulty obtaining a diagnosis.
Invitae is looking for individuals with specific genetic all confirmed forms of spinocerebellar ataxia - SCA10, SCA12, SCA31, SCA3 and DRPLA - who are willing to provide a saliva sample and a copy of their genetic test results.
How can I participate?
You are eligible if you have a genetic test report from a clinical lab stating a genetically confirmed diagnosis of above mentioned SCAs or DRPLA. If you are interested in participating, please contact Invitae Genetic Counselor Hannah White at hannah.white@invitae.com for more information.
How do I get a specimen to Invitae?
Invitae will send a saliva collection kit to your home. The kit includes a pre-paid FedEx label for sending the saliva sample to Invitae.
What will Invitae do with my specimen?
Invitae will anonymize the sample (by removing your name and any other identifiers), extract DNA from the saliva, and then run the assay to determine if the test is able to detect your genetic change. Your DNA and data will remain anonymous and will be used for research, development, and validation purposes only.
Invitae offers $200 compensation to thank you for your time and willingness to help develop a low-cost, high-quality test for spinocerebellar ataxias.
Hi Peter,
BeantwoordenVerwijderenWe have been flooded with responses regarding this opportunity (which is amazing!) and because of this we are currently only accepting samples from individuals with genetically confirmed diagnoses of SCA10, SCA12, or DRPLA.
Thanks so much for reaching out to us; we very much appreciate your willingness to help us bring more affordable SCA testing options to people in the future!
Best,
Hannah