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Exome

Improve disease diagnosis, monitoring, and treatment of rare disorders.

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:

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).

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.

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.

Why Exome with CNV?

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 physicians.3

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

Term Description
Test code 36395
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

Term Description
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

Term Description
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

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

Term Description
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

Term Description
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.

How to order

*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.

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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

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).

Genetics

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