How to choose which lab genetic test

Jenbb · November 2016

I'm thinking of doing genetic testing due to being high risk and have talked to some professionals to help me figure out the differences between tests and genetic testing labs. I have insurance so not really interested in just doing the cheapest test. Who are the top labs in this area? Several people have said Color and Invitae provide good pricing but don't have much experience and have low quality and accuracy which may be ok for low risk but I want the best test possible.Any suggestions?

Moderators · November 2016

Dear Jenbb,

We'd like to send you a warm welcome to the BCO community forums.

May we direct you to the discussion thread below where other members have shared their genetic testing story.

This is a difficult decision and we hope the community can help you make the best decision for you.

Share your genetic testing story

Sending love and hugs,

The Moderators.

farmerlucy · November 2016

I think Color Genomics did an excellent job for my multipanel testing. Myriad did my initial testing for BRCA and BART. It was fine, one page result. Color had much more educational opportunities for me, and I was even able to speak with a genetic counselor afterward who sent me a follow up email recommending a high risk screening facility where my DD lived. Just because it is cheaper does not make it inferior. I have never heard that at all. I would use CG again in a heartbeat even if it cost me a bit more.

MelissaDallas · November 2016

If I had good insurance I would go to a geneticist at an NCI designated cancer center's high risk program and let the counselor determine and order my testing

ravzari · November 2016

I didn't have the option to choose which panel was done, but the high risk/genetics people at the clinic I went to ran the BreastNext panel.

Jenbb · November 2016

thank you for the information. Looks like breastnext is from Ambry Genetics which I've been told is the best there is. I'm going to try and get this one done. Thank yo

Jenbb · November 2016

thanks for sharing your experience. I'm sure Color does a fine job and can find a good portion of mutations but I've been told that they are not experienced with figuring out uncharacteristic mutations. Also if you're negative there is a chance they have missed the mutation

mustlovepoodles · November 2016

Ambry did mine and my daughter's . The real necessity is having a good genetics counselor to guide you.

Hopeful82014 · November 2016

It may come down to a question of which lab (and panel) your insurer will authorize, as well as which one your genetic counselor will recommend.

Denise-G · November 2016

The University of Michigan Cancer Center uses Ambry which is where I had mine done, as did my mother and sister.

ShetlandPony · November 2016

I saw genetics specialists at an NCCN center, and they used Ambry for my testing.

maiyen · December 2016

I saw a genetic counselor at an NCI designated cancer center and they used Ambry.

Bethrosco · June 2017

Hi all,

Anyone hear of Invitae missing mutations? Friend had testing done here and they missed a mutation that another lab picked up in one of the Lynch genes.

Thanks

farmerlucy · June 2017

yikes!

JaneLynn42 · September 2017

Just saw in the news that Invitae needs to retest 50K samples due to inaccurate test results for cancer tests. Sounds like they were missing mutations for the last 11 months.

From the dark report publication:

INVITAE GENETICS LAB TO RETEST 50,000 PATIENTS AFTER FINDING ERRORS

BarredOwl · September 2017

These articles clarify that during a certain window of time (after revamping their assay), some test(s) or panel(s) designed to identify it would miss a specific and rare gene rearrangement in the MSH2 gene termed the "Boland inversion":

https://www.genomeweb.com/molecular-diagnostics/invitae-failure-detect-rare-mutation-indicative-intense-lab-pressures

http://www.sfchronicle.com/business/article/After-error-SF-genetic-testing-firm-is-retesting-12192601.php

BarredOwl

How to choose which lab genetic test

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INVITAE GENETICS LAB TO RETEST 50,000 PATIENTS AFTER FINDING ERRORS

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