• Test Code:
  • Department:
  • Test Synonyms:
    Medical Exome Array: Deletion/Duplication Analysis
  • CPT Code(s):

Genetic disorders are rarely caused by an isolated mutation within a single gene, and one or many genes can contribute to one or multiple disorders. It is therefore vital to assess many different genes in order to gain a true picture of the underlying genetic landscape. The Exome Deletion/Duplication Analysis is designed to identify deletions and duplications within the exons of disease-associated genes, which are missed by exome sequencing platforms. Using a one million probe array, OGT has designed a highly targeted exon-focused array capable of detecting medically relevant microdeletions and microduplications. This array provides complete coverage of over 4600 hand-curated, research-validated disease-associated genes at exon-level resolution.


DNA isolated from peripheral blood is hybridized to a CytoSure Medical Research Exome Array (Oxford Gene Technology) to detect deletions and duplications. The targeted array has 1,000,000 probes targeted to the exonic regions of 4,645 medically relevant genes. The arrays will be run using Agilent SureScan technology.

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5mL
  • Child: 5mL
  • Infant: 2-3mL
Saliva: 2 ORAgene Saliva Kits (OGR-500) used according to manufacturer instructions.  Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Assisted Saliva:
4 ORAgene Assisted Saliva Kits (OGR-575) used according to manufacturer instructions.  Please contact KDL Client Services for an Assisted Saliva Collection Kit for patients that cannot provide a blood sample.
DNA: 10µg at a minimum of 60-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion. For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Exome Sequencing Consent Form, Proband must be filled out and accompany all samples.

Test Performed (Days):


Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.
  • References:

    Additional Info:

    The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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