• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Next Generation Sequencing plus array
  • 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 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 deletion/duplication test is designed to identify single exon deletions and duplications in over 4600 disease-associated genes. Combining CNV data analyzed by microarray with exome sequencing data will allow KDL to improve diagnostic yield and deliver more comprehensive results.

Reasons for Referral:

  • Validation of exome sequencing data for duplications and deletions.
  • Inconclusive results from targeted panel testing.
  • Expediting diagnostic results.
  • Presentation of multiple unexplained symptoms.
  • Genetic etiology contributes to patient’s symptoms.


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: Deletion/Duplication Analysis – 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:

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: 5-10µg 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:

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.
  • References:

    Additional Info: