• Test Code:
  • Department:
  • Test Synonyms:
    Whole ExomeClinical exomeMedical exomeTargeted exomeExome sequencing and trio analysis
  • CPT Code(s):

The human exome contains all protein coding regions of the genome encoding ~22,000 genes. Current estimations are that 85% of the disease causing mutations resides within the exome. Our exome sequencing test has been designed to give genetic sequencing information for the entire exome in addition to coverage in genes that are known to be associated with diseases. Exome sequencing has proven to be valuable in diagnosing rare hereditary diseases, especially when the patient’s physical exam and medical history strongly suggest a genetic etiology.  It can be ordered early in a proband’s evaluation, or following extensive negative genetic or metabolic tests..  With the addition of parental testing, (i.e. trio analysis) clinical diagnosis can be further improved by identifying de novo variants present in the affected child, but not in either parent.

Reasons for Referral:

  • Diagnostic Testing
  • Negative results from targeted panel testing


Next generation sequencing is performed using Illumina NextSeq 500 technology and Agilent library preparations. Sequencing performance and coverage have been improved in ~4600 genes are associated causing genetic disorder to improve diagnostic yield.   By sequencing the exome of a patient and comparing it to the normal reference sequence along with clinical phenotypic information, variations in an individual's DNA sequence can be identified and related back to the individual's medical concerns in an effort to discover the cause of his/her disorder.

Please note that exonic deletions and duplications will not be detected by this test, but can be detected by the medical exome microarray test, which is ordered separately.

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, Family 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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