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Quest Diagnostics

Whole exome sequencing

Whole exome sequencing (WES) assists with diagnosing genetic conditions in situations when targeted genetic testing was unsuccessful

WES can help identify the genetic causes for patients who have multiple congenital anomalies and/or neurodevelopmental disorders. Detection rates range from about 28.8% to as high as 57.5% for this patient population.1-4

Among those with positive genetic findings, a substantial proportion (~30% to 55% in contemporary cohorts) experience changes in clinical management such as targeted treatments, specialist referrals, or altered surveillance strategies.5

Who benefits from WES?

WES is most suitable for individuals with: 

Complex phenotypes with multiple differential diagnoses

Suspected genetic disorders where a specific genetic test is not available

Genetically heterogeneous disorders

Inconclusive previous genetic testing

Congenital anomalies or pediatric presentations

Neurodevelopmental conditions

Why WES from Quest?

Enhancing care with results you can trust

Quest uses a rules-based, weighted process (published by Quest researchers in 2015) that is aligned with the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines. We also follow American Academy of Pediatrics (AAP) recommendations for WES and Whole Genome Sequencing (WGS)­—including using these as first-tier tests for children with certain developmental delays.

We conduct a thorough investigation of published research, which is then integrated with data from our internal dataset, external databases, research collaborations, and clinician-provided phenotypes. Close collaboration among our genomic variant scientists, genetic counselors, and clinical laboratory directors facilitates the collection and systemic analysis of relevant information to provide clinically informative results to our clients.

Helping ensure the highest standards in quality and performance

Enhanced clinical utility maximizes diagnostic yield in patients with rare diseases.

Mitochondrial genome (mtDNA) mean sequencing depth is 6,800X, with > 98% of base pairs covered at more than 20X in target regions.

Results are available within 6-8 weeks with comprehensive, customer-friendly reports.

This test should not be used for the detection of somatic mutations in tumor tissue.

Mean sequencing coverage is on average 136X at 100M sequencing reads.

Results are interpreted by a disease expert team of PhD geneticists, certified geneticists, and clinical consultants.

Optional ACMG analysis is available following guidelines (v3.1).

Testing portfolio

Test code

Test name

CPT® code*

Preferred specimena

Sample specifications

Turnaround time

Specimen stability

13517

Whole Exome

81415

Whole blood, saliva, or buccal

Blood: 5 mL whole blood collected in EDTA (lavender-top) tube

Saliva: 2 mL saliva collected in the Oragene-Dx collection kit (OG-500/OGD-500, OG-510/OGD-510, OG-575/OGD-575)

Buccal: Buccal swab collected in Oragene-Dx collection kit (OCD-100/OCD-100A)

6-8 weeks

Room temperature:10 days

Refrigerated:10 days

Frozen: Unacceptable

13518

Whole Exome Family Duo

81415, 81416

13519

Whole Exome Family Trio

81415, 81416x2

 
* The CPT codes provided are based on American Medical Association guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

The power of Quest Diagnostics

Benefits investigation, prior authorization, and financial assistance services for all exome orders billed to a third party

A nationwide team of laboratory directors, genetic counselors, MDs, and expert genomic specialists who guide adoption and clinical use

A large in-network payer base to help minimize patient risk for high out-of-pocket costs

2,400+ Patient Service Centers (PSCs), broad EHR connectivity, and physician-friendly reporting

Convenient ways to order and receive results through Quanum® Lab Services Manager or your institution's interfaced EHR

Seamless integration into care optimization strategies, supported by 850+ clinical experts

References

  1. Chang YM, Huang YT, Lai PC. Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis. Syst Rev. 2025;14(1):155. doi:10.1186/s13643-025-02896-y
  2. Li C, Wang Y, Zeng C, et al. Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay. Sci Rep. 2024;14(1): 27590. doi:10.1038/s41598-024-79431-x
  3. Wu R, Li X, Meng Z, et al. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing. Orphanet J Rare Dis. 2024;19(1):205. doi:10.1186/s13023-024-03214-w
  4. Wayhelova M, Vallova V, Broz P, et al. Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders. Orphanet J Rare Dis. 2024;19(1):41. doi:10.1186/s13023-024-03056-6
  5. Pandey R, Fluetsch Brennan N,  Trachana K, et al. A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases, Genet Med. 2025;27(6):101398. doi:10.1016/j.gim.2025.101398

Contact us

For questions related to the Exome with CNV Evaluation test, please contact our Genomic Client Services team at 1.866.GENE.INFO (1.866.436.3463).

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA-certified laboratories that provide HIPAA-covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA-covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2026 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.