Test Update // Whole Exome Sequencing

Dear Valued Clients, 

Thank you for your continued trust in Baylor Genetics as your genetic testing partner. As we continue to upgrade and refine our test menu and services, we want you to be the first to know about changes that may affect your testing experience with us.

Effective immediately, and to better serve our clients and patients, Baylor Genetics has made updates to our Whole Exome Sequencing reports. The new exome report will provide detailed variant interpretation, which will include variant frequencies, in silico predictions, and literatures – if available.

Furthermore, exome reports will no longer include secondary findings of a 10-disease carrier panel. For clients interested in carrier screening, we recommend GeneAwareTM, BG’s universal carrier screen. Multiple panel options are available depending on the needs of the provider and/or patient.

The genes on the 10-disease carrier panel include:

  1. Cystic fibrosis (CFTR)
  2. Sickle cell anemia (HBB)
  3. Tay-Sachs disease (HEXA)
  4. Canavan disease (ASPA)
  5. Fanconi anemia, group C (FANCC)
  6. Niemann-Pick, type A (SMPD1)
  7. Bloom syndrome (BLM)
  8. Mucolipidosis, type IV (MCOLN1)
  9. Gaucher disease, type I (GBA)
  10. Familial dysautonomia (ELP1)

In addition to an updated report format, an updated version of the WES Advantage requisition is available on the BG website. 

If you have specific questions regarding this update, please contact your Baylor Genetics account representative, call our Client Relations Division at 1-800-411-4363, or email us at help@baylorgenetics.com. For additional Whole Exome Sequencing offerings, please visit the website.

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