DNACase_1170

Ambry's Unsolved Mysteries

Ambry Genetics® is offering paired DNA/RNA genetic testing to 25 selected high-risk patients with previously negative genetic test results at no cost!

Are you a healthcare provider who has at least one patient with a strong clinical history suggestive of hereditary cancer, but, to your surprise, no identifiable explanation? +RNAinsight® from Ambry Genetics may be able to help provide a clinically meaningful answer! 

+RNAinsight has the potential to provide clinically actionable results for these patients by either identifying a new mutation that was previously missed by DNA-only testing or providing additional evidence to clarify the interpretation of a genetic variant.

Rebekah Krukenberg

Rebekah Krukenberg
MS, CGC, LGC

Community Health Network
Setting a New Bar for Genetic Testing

“I have a family whose diagnosis has been eluding me for years. I just knew they had Lynch syndrome, but I couldn’t prove it until I was able to order RNA testing. RNA has forever changed the lives of every single member of this family, and it has changed the way I want to practice moving forward. I now firmly believe that RNA should be a part of first-line genetic testing for all patients.”

Program Details

What: Ambry Genetics is offering no cost genetic testing including +RNAinsight for 25 selected high-risk patients through the Unsolved Mysteries Program

Who: To be considered for no cost testing including +RNAinsight, patients must have:

  • A personal history of cancer
  • Personal and/or family history strongly suggestive of a hereditary cancer condition associated with +RNAinsight genes (APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, MUTYH, NF1, PTEN, PALB2, RAD51C, RAD51D, and TP53)
  • History of previous genetic testing that did NOT identify any pathogenic or likely pathogenic variants in a gene that may explain the patient's clinical history

How: Our selection committee (including internal and external Genetic Counselors) will review deidentified, submitted cases and select 25 patients based on their clinical history. Providers with a selected patient will be contacted via email and/or phone regarding next steps^

When: Submit your patient by May 30, 2020

If you have additional questions about Ambry’s Unsolved Mysteries Program, please contact us.

Learn more about +RNAinsight at ambrygen.com/RNAinsight

^Note that a blood specimen (1 PAXgene® tube and 1 EDTA tube) will be required for testing, including for patients previously tested at Ambry Genetics.