Whole Genome Sequencing

Unlock the most comprehensive genomic insights—all from a single, powerful test.

Benefits of Whole Genome Sequencing

Whole genome sequencing (WGS), also known as genome testing, analyzes the entire genome—including both the protein-coding regions (exons) and the non-coding regions (introns). This makes WGS the most comprehensive and actionable genetic test available, offering the highest chance of identifying the cause behind complex conditions.

Why Trio Testing Matters

When both biological parents* submit samples alongside the patient, it’s called “trio testing.” This approach provides valuable genetic context, improving interpretation and speeding up the path to a clear diagnosis.

  • Increase diagnostic yield by 7–15%
  • Lower the rate of variants of uncertain significance (VUS) to 18.9%, compared to 27.6% without parental samples

If biological parents are unavailable, close relatives may be used to complete the trio.

Explore Your Genome Testing Options

Discover the most advanced tools for accurate diagnosis and personalized care—all in one place.

GenSeq® – Complete Whole Genome Sequencing

Comprehensive genome sequencing that analyzes both the protein-coding and non-coding regions of an individual’s nuclear genome, delivering deeper insights into genetic conditions.

What's Included:
  • Full nuclear genome analysis
  • Includes detection of repeat expansion disorders (e.g., DMPK, FMR1)
  • Mitochondrial genome sequencing and deletion screening
  • Complimentary reanalysis available (recommended after 18–24 months or if health status changes)
Sample Requirements:
  • Proband: Blood (2–5mL in EDTA, lavender top)
  • Parents/relatives: Blood (2–5mL in EDTA) or Buccal swabs (2)
Test Codes:
  • Trio: J774a
  • Duo: J774e
  • Proband only: J774b
Turnaround Time:
  • Full results in 4 weeks
  • Mitochondrial genome report in 3–4 weeks

GenSeq Xpress® – Rapid Genome Sequencing

All the comprehensive insights of GenSeq testing—delivered faster. Ideal for acutely or critically ill patients who need rapid answers.

What's Included:
  • Full genome analysis with provisional results in under a week
  • Detects repeat expansion disorders
  • Includes mitochondrial genome and deletion screening
  • One-time free reanalysis included
Sample Requirements:
  • Proband: Blood (2–5mL in EDTA, lavender top)
  • Parents/Relatives: Blood (2–5mL in EDTA) or Buccal swabs (2)
Test Codes:
  • Trio: TH78a
  • Duo: TH78e
  • Proband only: TH78b
Turnaround Time:
  • Provisional findings in 5–7 days
  • Final report in 14 days
  • Mitochondrial genome report in 3–4 weeks

Note: Turnaround times are estimated and begin once the sample(s) are received and processing starts at the East Valley Diagnostics lab. Timelines may be extended due to factors beyond East Valley Diagnostics control.