Whole Genome Sequencing

Test Introduction

WGS: Whole Genome Sequencing (WGS) refers to the process of determining the complete DNA sequence of an organism’s genome. This method provides a detailed analysis of both coding and non-coding regions, enabling comprehensive insights into the genetic makeup of humans, animals, plants, and microbial species. By examining the entire genome, WGS identifies a broad spectrum of genetic variations, including single nucleotide polymorphisms (SNPs), insertions and deletions (INDELs), copy number variations (CNVs), and structural variations (SVs). Our sequencing analysis enables the identification of somatic and germline mutations as well as customized patterns of cancers and other diseases.

Test Description

PacificDx offers the WGS assay at multiple regulatory levels, from Research Use Only (RUO) to Good Clinical Practices (GCP) to CAP/CLIA, depending on the intended use of the assay by our client. Sequencing template, depth and analysis can be customized to your exact requirements. Please reach out to our team to discuss your intended use so we can better guide which regulatory level is most appropriate for your clinical or research program(s).

High Accuracy: With advanced sequencing technologies, WGS delivers highly accurate and reliable data.
High-Throughput Sequencing: Rapid and scalable sequencing for large-scale projects.
Comprehensive Analysis: WGS captures all genomic variants, including SNPs, INDELs, CNVs, and SVs, providing a complete picture of an organism’s genetic landscape.
Customizable Insights: Our WGS analysis can be tailored to specific research or clinical needs, such as identifying cancer-specific mutations or studying rare genetic disorders.

Test Ordering

The test may be ordered by contacting ResearchDx or PacificDx

Sample Collection and Shipping Instructions

For Tissues analysis:

FFPE Tissue Blocks are the preferred sample type versus slides. If sending unstained slides, please send a minimum of 10-15 slides, freshly cut at 4-6 microns. Archival cut slides are acceptable if less than 30 days old.

For Whole Blood:

Collect a total of 20 mL of whole blood into the 2 K2-EDTA tubes
Sample shipment to testing laboratory must occur within 7 days of blood draw

NovaSeq 6000

System specifications:

80Gb – 6Tb output range, 1.6 – 40 B paired end reads per run, and PE150, PE250, PE50, etc.

This test was developed, and its analytical performance characteristics have been determined by PacificDx. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.