Test Update // Whole Genome Sequencing

Dear Valued Clients,

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

Effective immediately, and to better serve our partners and their patients, we at Baylor Genetics have made updates to our Whole Genome Sequencing (WGS) product. WGS is a comprehensive genetic test that looks at the entire human genome (up to 98%), as opposed to only the exome (the coding regions of human DNA), which only accounts for about 2% of the human genome or at only specific genes. With this level of coverage, WGS has the advantage of being a single test that can detect genetic variants that may not be recognized from a test that is highly specific or only targets the exome. Patient results from WGS have the ability to end the diagnostic journey sooner.

To improve the functionality of BG’s WGS, the following product improvements have been implemented:

  • Inclusion of Mitochondrial variants: This product improvement will be able to look at potential pathogenic variants found in mitochondrial DNA. Mitochondrial diseases are genetically determined and effect multiple organ systems, thus this product improvement will allow patients to gain information on all potential genetic, nuclear, and mitochondrial information.
  • Inclusion of Trinucleotide Repeats (TNR): TNRs are repeats of a three-nucleotide motif. TNR diseases are caused by unstable copy numbers of these nucleotide motifs found on disease-associated genes. The disruption to the genes and/or to the function of the gene’s results in the pathogenesis of certain diseases.

Features that were already on WGS but have been improved, include the following:

  • Copy Number Variants (CNV): Refers to the number of copies of a particular gene an individual has. Looking at CNVs may pinpoint a genetic cause of a disease as CNVs may result in a pathogenic genotype (i.e., CNV disrupts important gene function, CNV may be particularly large, etc.).
  • Structural Variants (SV) & Single Nucleotide Variants (SNV): Structural variants include deletions, duplications, copy number variants, insertions, inversions, and translocations. Structural variants are longer-range changes in the DNA and not caught by tests focusing on smaller-range DNA changes. With the updated version of WGS, BG will have the ability to detect these larger-range DNA changes, as well as the smaller-range changes (e.g., SNVs, small insertion/deletions, etc.).

If you have specific questions regarding these updates, please contact your Baylor Genetics account representative, call our Client Relations Division at 1-800-411-4363, or email us at help@baylorgenetics.com.

Thank you for your continued business.

 

Previous Post
Baylor Genetics Featured in The Journal of the American Medical Association for Research on Metabolic Disorders in Newborns
Next Post
Test Update // Global MAPS® (CSF)
Menu