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.
Baylor Genetics is pleased to offer upgraded universal carrier screening panels which feature next-generation sequencing coverage of 99% of bases at > 20x and CNV analysis for all genes, including specific recurrent CNVs. Several large and small panel options are available that can include conditions such as congenital adrenal hyperplasia (CAH), Duchenne Muscular Dystrophy (DMD), and spinal muscular atrophy (SMA).
Please note that the following BG carrier screens will no longer perform CNV analysis for GJB6 or MECP2 duplication:
- Test Code 64000 (158 genes): GeneAware Complete Panel, version 2 (female)
- Note: This was previously Test Code 60101.
- Test Code 64005 (158 genes): GeneAware Complete Panel, version 2 (male)
- Note: This was previously Test Code 60106 and MECP2 CNV analysis is not applicable for this test.
However, CNV analysis for GJB6 is available as a single gene test (Test Code 6355) for testing of common deletions (232kb and 309kb). In addition, CNV analysis for MECP2 is available as a single gene test (Test Code 6069) for testing of common deletions and duplications.
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 firstname.lastname@example.org. For additional GeneAware (carrier screen) offerings, please visit our website.