Whole Exome Sequencing


The exome contains the functionally important coding regions of the human genome. Exome sequencing selectively targets these portions of the genome and has proven to be efficient and an extremely cost effective method of identifying DNA variants. In contrast to traditional Sanger sequencing tests that analyze a single gene or small group of genes at once, exome sequencing has the ability to simultaneously analyze approximately 60 million base pairs, representing 22,000 genes using next-generation sequencing (NGS). Sequencing of the exome can help identify variants that may be the genetic cause of a wide range of traits and conditions. NGS relies on a method that enriches a sample by using DNA capture probes targeted only to the exome portion of the genome. Results (raw data only) are delivered to the customer via electronic FTP transfer and are only stored by Gene by Gene for 30 days.

Sample requirements

By default, Gene by Gene will provide buccal (cheek) swab kits with each order. Each test requires two buccal swabs which are included in each kit. This is the preferred sample collection method. Gene By Gene will provide return packaging and a pre-paid shipping label. *Shipping fees may apply to orders outside the United States.

If necessary, Gene by Gene can accept most DNA sample types, including:
  • Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples
  • Blood: 3-5cc drawn in EDTA (purple-top) tube
  • Shipping: For all buccal and non-buccal sample types, ship at room temperature in an insulated container. DO NOT HEAT OR FREEZE SAMPLE.


  • Enrichment: Qiagen QIAseq RX DNA Library Kit and/or Twist Bioscience Human Core Exome Kit
  • Platform: Illumina NovaSeq 6000
  • Deliverables:
    • Raw data will be provided in FastQ format
    • Results are delivered to the customer via secureFTP transfer and are only stored by Gene by Gene for 30 days.
Test Request Form