Requesting Genetics Lab Reports
To be eligible to participate in Simons Searchlight, we require a copy of your or your child’s genetics lab report that shows one of the genetic disorders on our list. Our team of genetic counselors must review the results and confirm if you or your child are eligible. Until we get a copy of the genetics lab report and confirm eligibility, you and your family are not able to complete surveys and provide data for researchers.
If you do not have a copy of your or your child’s genetics lab report, the steps listed below will help you request the original document.
How to request a copy of your results:
- Contact the provider — Start by reaching out to the healthcare provider who ordered the genetic test.
- If you live in the United States and/or if you have an online healthcare portal, such as MyChart, send a message to your provider to let them know that you need the genetics lab report to participate in a research study.
If you know the test laboratory (such as GeneDx, Ambry, Invitae), contact the laboratory directly. We have the contact information for several common labs listed in the spreadsheet linked here. Some labs may have an online portal that allows access to your results.
- If you live in the United States and/or if you have an online healthcare portal, such as MyChart, send a message to your provider to let them know that you need the genetics lab report to participate in a research study.
- Search for medical records — If you have only the provider’s name or facility’s name, search for the medical records department at that location. Many facilities have a dedicated department for requesting records.
- Note that in the United States, the 21st Century Cures Act is a federal law that requires healthcare providers to give patients access to their electronic health information without delay and at no cost.
What records to request:
- We need a copy of the genetics lab report that shows the genetic diagnosis that makes you or your child eligible for the study.
- Please write out in your request that you only need the medical record that shows the eligible genetic change, for example “STXBP1” or “16p11.2 deletion”.
- At this time we are not collecting other medical records, clinic notes, or physician notes.
What your results should include:
- Details of the genetic change identified, for example, STXBP1, c.33A>G, p.Val11Ala, or 16q11.2(29,500,00-30,500,000)x1.
The name of the laboratory or facility that completed the testing.
The name and date of birth of the person tested.
If you’re unsure whether your results meet these requirements, email them to us at coordinator@SimonsSearchlight.org, and we can review them to confirm.
Helpful resources:
We have compiled a list of common institutions and laboratories that have completed genetic testing for Simons Searchlight participants. Please review this list to help you get started. If you find that the information in this list is outdated, please let us know.
If you have not been able to successfully request genetic testing records, please email us at coordinator@SimonsSearchlight.org and we will do our best to assist you.