• Test Code:
  • Department:
  • Test Synonyms:
    Whole ExomeClinical ExomeMedical ExomeTargeted ExomeExome sequencing and trio analysis
  • CPT Code(s):

The Exome Sequencing and Deletion/Duplication test is used when a patient's medical history and physical exam findings strongly suggest that there is an underlying genetic etiology.  Our clinical whole exome next generation sequencing (NGS) test has been designed to give genetic sequencing information for the entire exome plus extra coverage in genes that are associated with diseases. Our exome deletion/duplication test is designed to identify exon deletions and duplications in over 4600 disease-associated genes.  Combining exon deletion/duplication data with exome sequencing data improves diagnostic yield by comprehensive testing. Trio testing compares the proband and both parents to identify de novo changes that may explain the patient’s phenotype.

Reasons for Referral:

  • Diagnostic Testing for symptomatic patients without a definite diagnosis
  • Reflex testing for patients who have already undergone testing for single genes or gene panels with negative findings


This test has two components:

Component 1: The Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. In addition, extra probes are added to enrich clinically relevant genes.

Component 2: Exome Deletion/Duplication – The CytoSure Medical Research Exome Array (Oxford Gene Technology) will be used 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. This array is an ideal complement to an exome sequencing approach to provide a comprehensive mutation spectrum analysis in rare disease.

Specimen Requirements:

3 samples to be collected:

  • Patient/Child (Proband)
  • Mother
  • Father

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 – Trio must be filled out and must accompany all samples.

Test Performed (Days):


Turn Around Time:

Approximately 12-16 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.


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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