I’m so thrilled to have found this option that I had to share. This is going to sound like a commercial. Sorry, I’m just excited. 😂 After being stuck in genetics referral limbo for aaaages, I just did a quick telehealth consult with Genome Medical and they were able to order Invitae’s connective tissue panel and pharmacogenomic panel for me. I am diagnosed with hEDS but want to rule out other subtypes (and just learn more). Caveat: I believe this is only covered in the US but am not sure https://www.genomemedical.com/ I’m mostly so happy that it’s affordable and with how easy it was to schedule (for time comparison, my first genetics referral was denied 10 years ago). You do it all online and I got an appointment within a few days. There is no referral needed. You fill out a questionnaire of reasonable length. The consult is over zoom. It’s $50 and covered by insurance. The Invitae tests may or may not be covered by insurance (I was warned that insurance often denies the claim if you have an existing diagnosis). If not, they are $250 cash pay for each panel. If you test positive on any of the variants, they will offer free testing to family members. Fingers crossed that this experience continues to be awesome, including insurance, testing, and evaluating results. If for some reason it goes downhill, I will update this post. Update: everything went great with the service. Fast scheduling and turnaround times, helpful genetic counselor. #genetics #genomics

Posted by Eri at 2022-08-15 20:47:17 UTC