With one of the fastest turnaround times in the industry, our whole genome sequencing (WGS) assays connect patients with answers quickly, efficiently, and cost-effectively.

microscope
 

On November 17, 2025, ARUP Laboratories’ new WGS and rapid WGS (rWGS) assays will be available.

These new assays will include:

  • Copy number variants (CNVs)
  • Mitochondrial sequence variants
  • SMN1 deletions for spinal muscular atrophy

Why Choose ARUP?

We offer one of the fastest turnaround times in the industry. Our rapid genome sequencing test yields results within five to seven days to provide clear, rapid answers for patients with acute conditions, such as newborns in the neonatal intensive care unit (NICU). For nonacute clinical scenarios, our genome sequencing test yields results within three weeks.

chat-communicate

Supported by expertise

Every genome sequencing case is reviewed by our highly experienced team of medical directors and clinical variant scientists to ensure accurate and relevant interpretation. ARUP’s genetic counselors are available for pre- or posttest consultations with healthcare providers.


chat-communicate

Correlated with clinical findings

Our interpretation is correlated with the clinical picture to pinpoint relevant variants and provide clear answers.


chat-communicate

Driven by efficiency

Our competitive turnaround times mean prompt results.


chat-communicate

Committed to patients

ARUP offers reanalysis of WGS or rWGS data for any samples initially tested at ARUP.

 

ARUP Tests

New Tests (Available November 17, 2025)

Test CodeTest NameTurnaround Time
3019947Rapid Genome Sequencing5–7 days
3019953Rapid Genome Sequencing, Familial Comparator5–7 days
3019943Genome Sequencing14–21 days
3019951Genome Sequencing, Familial Comparator14–21 days
3005939Whole Genome Reanalysis14–21 days

Previous Tests (Will Be Inactivated January 20, 2026)

Test CodeTest Name
3016493Whole Genome Sequencing
3016497Whole Genome Sequencing, Familial Control
3005935Rapid Whole Genome Sequencing
3005928Rapid Whole Genome Sequencing, Familial Control

Note: Orders for the previous tests that are received on or after November 17, 2025, will be automatically applied to the new tests. The previous WGS and rWGS assays will be inactivated with the Quarterly Hotline, effective January 20, 2026.

Clinical Benefits of WGS

When used as a first-tier testing strategy, WGS is more likely to provide a precise diagnosis.

  • Increased diagnostic yield: WGS has demonstrated superior diagnostic yield over whole exome sequencing and targeted gene assays.1
  • Decreased overall cost: Using WGS as an initial, comprehensive testing strategy decreases the overall cost of care by reducing the need for sequential or follow-up testing and inpatient stays.2,3
  • Decreased time to diagnosis: WGS significantly reduces the time needed to reach a precise diagnosis by eliminating the need for sequential testing. A study to evaluate diagnostic yield and time to precise genetic diagnosis found that the average time to diagnosis decreased from 289 to 13 days when WGS or WES was used as first-line testing.4

Recommendations From Professional Organizations

  • The American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) recommend whole exome and genome sequencing as first-tier approaches to investigate developmental delay and intellectual disability.5
  • The National Society of Genetic Counselors (NSGC) recommends WGS for unexplained epilepsy in individuals of all ages.
 

Educational Resources

Genomic Sequencing: An Evolving Standard in Molecular Genetic Diagnosis by Hunter Best, PhD, FACMG, Steven Friedman, PhD, and Heidi Wiltse, MS, LCGC

 

  • Video Lecture

Clinical Applications of Whole Genome Sequencing by Hunter Best, PhD, FACMG
 

  • ARUP Consult®

Whole Genome Sequencing Test Fact Sheet

 



References

1. ARUP Laboratories. Genomic sequencing: an evolving standard in molecular genetic diagnosis. Published Oct 2025.
2. Moore C, Arenchild M, Waldman B, et al. Rapid whole-genome sequencing as a first-line test is likely to significantly reduce the cost of acute care in a private payer system. J Appl Lab Med. 2025;10(4):833-842.
3. Dimmock D, Caylor S, Waldman B, et al. Project Baby Bear: rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021;108(7):1231-1238.
4. Keefe AC, Scott AA, Kruidenier L, et al. Implementation of first-tier rapid genome sequencing in non-critical care pediatric wards. J Pediatr. Published online Jun 2025.
5. Rodan L, Stoler J, Chen E, et al. Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1):e2025072219.