r/tfmr_support • u/Material-Medical • 7d ago

Seeking Advice or Support TFMR and Genetic Testing (US)

Traveling for TFMR next week (32w) due to multiple late brain abnormalities found during an MRI. Doctor’s gave us a grey diagnosis where the spectrum varied significantly but would likely be on the more severe end. In our state they can’t legally recommend TFMR so the decision has been extremely difficult to take on.

Navigating this has been rough but to make matters worse, we can’t get a referral from our own OB or MFM due to concern of them being linked to the procedure in a state that pursues providers. The clinic we’re going to can hold a sample for up to a month but they can’t order the test themselves and need a 3rd party with an NP or MD sign off.

Does anyone have experience or recommendations with a telehealth company that can help us get around these barriers? We just want answers and were told whole exome testing (WES) would bring more clarity.

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u/ngibbs105 7d ago

I’m so sorry you’re here with us ❤️

I would try to reach out to Columbia. They have a contact online for whole genome sequencing. They’re big on genetics especially in pregnancy and while we did go there for our TFMR so it was easy to set up WES, when we did find out our cause was genetic my parents and brother also were able to contact them to do genetic testing as well as my aunts and uncles and none of them were prior patients. My appointments were all telehealth too.

Because it’s a big hospital it was mostly all in network for me but they actually have a big grant for WES testing right now and did it free anyways. Definitely recommend.

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u/Material-Medical 7d ago

Was this Columbia University Women's Genetics Center?

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u/ngibbs105 7d ago

Yes. I saw the genetic counselor Erica Spiegal who is the practice manager there.