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.

BG Whole Exome Sequencing Updates:

1. Rapid Whole Exome Sequencing (WES)

Starting April 28, 2021, updates and improvements of Critical Trio WES, test code 1722, will be in effect. BG’s WES test provides comprehensive analysis and timely results to patients in a cost-effective manner to speed-up diagnosis and ensure appropriate medical management and treatment.

Benefits of ordering BG’s Rapid WES:

    • Fastest test in the industry with a turnaround time starting at 5 days*
    • Flexible sample types – blood, saliva, buccal swab, or purified DNA
    • High diagnostic rate ~50% in an acute care setting

2. Effective immediately, test code 1505, parental control specimens for Proband WES will be discontinued. Parental specimens submitted for the following test codes will be handled as documented in the consent portion of the WES Requisition (see: Additional Reporting for Proband WES).

    • Test Code 1500: Proband WES
    • Test Code 1530: Proband WES + Chromosomal Microarray Analysis
    • Test Code 1531: Proband WES + Comprehensive mtDNA Analysis 
    • Test Code 1390: Total BluePrint Panel 
    • Test Code 1399: BluePrint Proband WES

After the proband report is issued, the parental samples will be tested through targeted methods, such as Sanger sequencing, for changes in genes that have a high probability to be causative of disease(s) to confirm mode of inheritance, de novo status, etc. as determined by BG.  Without an apparent candidate variant in proband, parental samples will not be sequenced and not included in the report.** An updated report of the proband will be issued to report parental inheritance and any changes in interpretation. To elucidate the role of candidate variants of unknown significance (VUS), parental samples can be sent later. An updated report will be issued within 4 weeks of when parental samples are received.

If opted-in to receive medically actionable findings, parental information will be issued in a separate report (under test code 1580, Custom Family Sequence Analysis). Testing of parental status will only be initiated if a medically actionable variant is identified in the proband. The initial report of the proband will state if parental studies are in process. Once results are ready, an amended proband report will be issued along with the parental report(s). 

For targeted testing of the variants detected in the proband’s exome data, test code 1580 is available for all family members. Complimentary testing for variants of unknown significance is available for immediate family members of the proband if approved by BG.      

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

* Rapid WES turnaround time starts at 5 days for blood samples and 6 days for saliva or buccal swab samples, from the day of receipt of samples. In case of buccal swabs, please send 2 samples for each individual. In case of failure of parental samples, Trio will be reported out with Proband data in the interest of time.

** No parental samples do not mean that candidate variants will be missed in proband.

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