Description

This test provides a detailed analysis of an individual’s entire genome, offering a comprehensive view of their genetic makeup. This test includes the following information about the genome:

  1. Coding and Non-Coding Regions: WGS sequences both the protein-coding regions (exons) and the non-coding regions, which can contain regulatory elements, structural variants, and other sequences that influence gene function.
  2. Single Nucleotide Variants (SNVs): It identifies single base changes in the DNA, which may be linked to inherited or complex diseases.
  3. Insertions and Deletions (Indels): WGS detects small insertions or deletions of DNA bases, which can disrupt gene function or regulation.
  4. Copy Number Variants (CNVs): It analyses larger sections of the genome that are duplicated or deleted, which may contribute to conditions like developmental disorders or cancer.
  5. Structural Variations: WGS identifies large structural changes in the genome, such as inversions, translocations, or complex rearrangements, which may affect multiple genes.
  6. Mitochondrial DNA: WGS can also sequence mitochondrial DNA, providing insight into maternal inheritance and mitochondrial-related disorders.
  7. Regulatory and Intergenic Regions: The test includes analysis of non-coding regions that control gene expression, offering information about potential disruptions in gene regulation.

By encompassing the entire genome, WGS provides a complete genetic profile, aiding in diagnosis, treatment planning, and understanding of complex traits or diseases.

4-6 weeks

This will close in 0 seconds