Quest Exome with CNV Evaluation helps to improve disease diagnosis, monitoring, and treatment of rare disorders. Exome with CNV Evaluation is used when the conditions are so rare no diagnostic tests exist, targeted testing is impractical, or definitive tests are unavailable or non-informative. This genetic testing portfolio includes Proband, Duo, Trio, and Reanalysis.

Our test delivers exome sequencing with a mean read depth of 126X, a validated CNV evaluation, and mitochondrial genome results with a mean read depth of 550X. The exome provides a coverage of 99.6% at 20X. These leading metrics come with the added benefit of having both CNV analysis and mitochondrial genome sequencing included.

Quest Exome with CNV Evaluation can help:

  • Shorten a long, frustrating, costly diagnostic journey for adult and pediatric patients
  • Provide a genetic diagnosis
  • Lower costs for physicians and patients1

Quest Exome with CNV Evaluation includes:

Proband: Only the individual with the suspected genetic condition is tested

Duo: The individual with the condition and one biological family member, preferably a parent, are tested (whether the family member is affected or unaffected)

Trio: The affected individual and both family members are tested (whether either or both family members are affected or unaffected, parents are preferred).

Reanalysis: Reanalyzes previously generated exome data

Quest also offers genetic testing services than can support physicians, and help to turn test results into clinically actionable insights:

Variant IQ: Our highly specialized scientists and genetic counselors review and determine the significance of genetic variants. The team uses Quest’s extensive database and a rules-based, weighted process that is aligned with the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP).

Genetic counseling: Our highly trained geneticists and genetic counselors support physicians with clinical consultations, expert interpretive assistance on test results, assistance with patient information collection, and test selection.

Secondary Findings: We follow the recommendations to the ACMG for reporting secondary findings, with appropriate consent, on 73 medically actionable genes. Reporting these findings helps to identify and manage risks for selected highly penetrant genetic disorders on the list.

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Download the Exome Ordering Guide

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).

Exome testing has become a well-established tool for diagnosing genetic conditions in situations where no targeted gene testing exists, or when targeted genetic testing has failed to identify the cause of disease. Exome testing can provide or clarify a diagnosis and, in many cases, minimize invasive testing.2

Copy Number Variation (CNV) is a structural variation in the human genome and is an important genetic cause of disease. When exome testing includes CNV, it can increase the clarity of diagnostic reporting for physicians3.

For many, a genetic diagnosis is likely to impact healthcare management in one or more ways. These may include surgical decisions, changes in diet or pharmaceutical treatment, or a switch to palliative care.

Exome with CNV Evaluation test information
Proband

Test code: 36935

Test name: Exome with CNV Evaluation, Proband

CPT code*: 81415

Preferred specimen**: Whole blood in lavender-top (EDTA) tubes

Alternative specimen: Saliva collected in Oragene OGD 500

Sample specifications:

Whole Blood:

  • Adult: 8mL (6mL min)
  • Pediatric (0-3 years): 2mL (1mL min)

Saliva:

  • Adult: 6mL min
  • Pediatric: 1mL min

Turnaround time: 6-8 weeks

Specimen stability:

Whole Blood:

  • Room temperature: 10 days
  • Refrigerated: 10 days
  • Frozen: unacceptable

Saliva:

  • Room temperature: 1 year
  • Refrigerated: 5 years
  • Frozen: 5 years

How to order
Trio

Test code: 36936

Test name: Exome with CNV Evaluation, Trio

CPT code*: 81415, 81416x2

Preferred specimen**: Whole blood in lavender-top (EDTA) tubes

Alternative specimen: Saliva collected in Oragene OGD 500

Sample specifications:

Whole Blood:

  • Adult: 8mL (6mL min)
  • Pediatric (0-3 years): 2mL (1mL min)

Saliva:

  • Adult: 6mL min
  • Pediatric: 1mL min

Turnaround time: 6-8 weeks

Specimen stability:

Whole Blood:

  • Room temperature: 10 days
  • Refrigerated: 10 days
  • Frozen: unacceptable

Saliva:

  • Room temperature: 1 year
  • Refrigerated: 5 years
  • Frozen: 5 years

How to order
Duo

Test code: 36937

Test name: Exome with CNV Evaluation, Duo

CPT code*: 81415, 81416

Preferred specimen**: Whole blood in lavender-top (EDTA) tubes

Alternative specimen: Saliva collected in Oragene OGD 500


Sample specifications:

Whole Blood:

  • Adult: 8mL (6mL min)
  • Pediatric (0-3 years): 2mL (1mL min)

Saliva:

  • Adult: 6mL min
  • Pediatric: 1mL min

Turnaround time: 6-8 weeks

Specimen stability:

Whole Blood:

  • Room temperature: 10 days
  • Refrigerated: 10 days
  • Frozen: unacceptable

Saliva:

  • Room temperature: 1 year
  • Refrigerated: 5 years
  • Frozen: 5 years

How to order
Family Member

Note: Use this test code to collect family member specimens for Trio and Duo testing

Test code: 36939

Test name: Exome, Family Member

CPT code*: Not applicable

Preferred specimen**: Whole blood in lavender-top (EDTA) tubes

Alternative specimen: Saliva collected in Oragene OGD 500


Sample specifications:

Whole Blood:

  • Adult: 8mL (6mL min)
  • Pediatric (0-3 years): 2mL (1mL min)

Saliva:

  • Adult: 6mL min
  • Pediatric: 1mL min

Turnaround time: Not applicable

Specimen stability:

Whole Blood:

  • Room temperature: 10 days
  • Refrigerated: 10 days
  • Frozen: unacceptable

Saliva:

  • Room temperature: 1 year
  • Refrigerated: 5 years
  • Frozen: 5 years

How to order
Reanalysis

Test code: 36938

Test name: Exome with CNV Evaluation, Reanalysis

CPT code*: 81417

Preferred specimen**: No sample needed

Sample specifications: No sample needed

Turnaround time: 6-8 weeks

Specimen stability: No sample needed

To initiate reanalysis, please call 1.866.GENE.INFO and speak with a Genomic Science Specialist.

*The CPT codes provided are based on AMA 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.

**DNA will be extracted from the sample and tested for changes in multiple genes.

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).

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References

  1. Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018;3:16. doi: 10.1038/s41525-018-0053-8
  2. Sathirapongsasuti JF, Lee H, Horst BA, et al. Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics. 2011;27(19):2648-2654. doi: 10.1093/bioinformatics/btr462
  3. Ellingford JM, Horn B, Campbell C, et al. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. J Med Genet. 2018;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791