• Test Code:
    2800
  • Department:
  • Test Synonyms:
    Clinical ExomeMedical ExomeTargeted ExomeExome Sequencing
  • CPT Code(s):
    81415
Background:

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 clinical test has been designed to give genetic sequencing information for the entire exome plus extra coverage in genes that are associated with diseases. Whole exome sequencing will prove to be valuable diagnosing rare hereditary diseases, inconclusive results from targeted panel tests, presentation of multiple phenotypes or when a patient presents an unknown or novel phenotype. Moreover, the KDL offers trio testing analysis by performing exome sequencing of the patient’s parents as well. This analysis can further improve clinical diagnosis and identifying novel mutations found within the patient, also offered by our lab.

Reasons for Referral:

  • Carrier screening.
  • Inconclusive results from targeted panel testing.
  • Expediting diagnostic results.
  • Presentation of multiple unexplained symptoms.
  • Genetic etiology contributes to patient’s symptoms.

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions; extra probes are added to enrich clinically relevant genes.

Specimen Requirements:

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

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL


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):

Weekly

Turn Around Time:

Approximately 20 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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