Whole Genome Sequencing

One Test. Unmatched Insight. Complete Clarity.

Why Choose Whole Genome Sequencing?

Whole genome sequencing (WGS) offers the most thorough genetic analysis available, delivering actionable results to end the search for a diagnosis—or prevent the search from starting at all.

WGS is the gold standard in genetic testing. It analyzes the entire genome—including both coding (exons) and non-coding (introns) regions—giving you the broadest possible view of a patient's genetic makeup. This approach increases the chances of pinpointing a diagnosis with speed and accuracy.

The Power of Trio Testing

Including samples from both biological parents (or close relatives, if necessary) alongside the patient enables “trio” testing—a strategy proven to improve interpretation, accelerate diagnosis, and reduce follow-up testing. Benefits of trio testing include:

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A 7–15% higher diagnostic success rate
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A reduced rate of variants of uncertain significance (VUS)—18.9% vs. 27.6%

If parents aren’t available, close relatives can be used as substitutes.

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Explore Our Genome Testing Options

Prescience Diagnostics offers cutting-edge genome sequencing designed to diagnose complex conditions, detect gene variants associated with disease, and assess risk in family members.

GenSeq®

This comprehensive test evaluates the entire nuclear genome, including both protein-coding and non-coding regions.

Key Features:

  • One complimentary reanalysis included (recommended at least 18–24 months after the initial result or if clinical symptoms change)
  • Includes detection of repeat expansion disorders like DMPK (congenital myotonic dystrophy) and FMR1 (fragile X syndrome)
  • Mitochondrial genome sequencing and deletion analysis also included

Test Codes:

  • Trio: J774a
  • Duo: J774e
  • Proband only: J774b

Sample Requirements:

  • Proband: Blood (2–5mL in EDTA, lavender top)
  • Parents/relatives: Blood (2–5mL in EDTA) or Buccal swabs (2)

Turnaround Time:

  • Full results in 4 weeks
  • Mitochondrial genome report in 3–4 weeks

GenSeq Xpress®

All the benefits of GenSeq®, but with faster results—ideal for patients in critical or time-sensitive situations.

Key Features:

  • Includes one-time free reanalysis
  • Tests for DMPK and FMR1 repeat expansion disorders
  • Covers mitochondrial genome sequencing and deletion detection

Test Codes:

  • Trio: TH78a
  • Duo: TH78e
  • Proband only: TH78b

Sample Requirements:

  • Proband: Blood (2–5mL in EDTA, lavender top)
  • Parents/relatives: Blood (2–5mL in EDTA) or Buccal swabs (2)

Turnaround Time:

  • Provisional findings in 5–7 days
  • Final report in 14 days
  • Mitochondrial genome report in 3–4 weeks

*Please note: Turnaround time starts once samples are received and processed at the Prescience Diagnostics lab and may be delayed by external factors..

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Why Prescience Diagnostics?

With more than 665,000 exome and genome sequences and over 100,000 mitochondrial genomes processed, Prescience Diagnostics has developed one of the largest proprietary databases in genomic medicine. This translates to faster, more definitive diagnoses for your patients.

We also bring over two decades of expertise in genomic testing—especially in detecting complex repeat expansion disorders—and provide:

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Seamless access to our experienced team of genetic specialists
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Exceptional support throughout the testing process
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A one-time, no-cost reanalysis as science and knowledge evolve
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