How is my sample tested?
Once your sample has been received by our laboratory, we make sure that it meets our quality criteria. The DNA is then extracted from the sample and prepared for analysis. We use a technology called next-generation sequencing (NGS) to look at your DNA and see if there are any variants that might cause the symptoms that you or your family member are experiencing.
Next-generation sequencing creates a huge amount of data, which needs complicated tools to turn it into information that can be interpreted by our molecular geneticists. Once the data has been analyzed, we provide your healthcare provider with a detailed report. Your healthcare provider will then discuss the results with you, help understand the information, and discuss next steps.
What will happen to my sample and the data after the test is complete?
You can choose to have your DNA stored for a longer period of time, which allows us to use your sample for additional testing if ordered by your healthcare provider. If you want to have your sample stored for longer than 1 year, please indicate this on the Informed Consent Form. This consent form is included in the at-home sample collection kit and can also be found on our website under the “Order form” section here.
You can also give consent for your sample to be used in research projects to help understand genetic diseases and to help Blueprint Genetics develop and improve testing for genetic diseases. If you choose to do this, your sample will be stored long-term. If your sample is used for research projects, all directly identifiable information will be removed. If you do not want to have your sample used for this research, it will not affect the testing we perform in any way.
The data obtained from testing will be stored long-term unless otherwise instructed. Within our organization, access to your personal data is limited to personnel participating in the diagnostic process, customer service and, in certain situations, technical personnel. When sharing scientific genetic findings, eg, in public variant databases or at scientific conferences, we make sure that any information shared is anonymous. No identifying information is ever revealed.