Exome with CNV Evaluation

Helping to make earlier diagnosis possible for even the most challenging conditions

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

Quest Exome with CNV Evaluation can help:

  • Shorten a long, frustrating, costly diagnostic journey for adult and pediatric patients
  • Determine recurrence risk
  • 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

Click here to download the Exome CNV brochure.


Quest also offers genetic testing services than can support physicians, and help 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 of the ACMG for reporting secondary findings, with appropriate consent, on 59 medically actionable genes. Reporting these findings helps to identify and manage risks for selected highly penetrant genetic disorders on the list.

How to order

The ordering process for genetic testing is detailed and comprehensive to help physicians collect as much information as possible for preauthorization. Please consider doing a preauthorization before collection. If you have not received a preauthorization for the patient, our Prior Authorization Services team is available to support you. Here is a description of the testing process for Exome with CNV Evaluation.

You can order the test in 1 of 3 ways:

Click here to download the Exome CNV ordering guide.

Click here to download the clinical history and consent form.

Click here to download the letter of medical necessity.

Click here to download the patient informed consent form.

Click here to download the Cigna genetic testing recommendation form.

Click here to download the Aetna precertification form.

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

*This form is intended for health care professionals in the USA.


  1. Clark M, 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.