Clinical Exome

Clinical Exome Sequencing

  • ApolloGen’s Clinical Exome Panel is designed to cover genes based on the Human Genome Mutation Database, OMIM, and Gene Test. These are genes that have been reported in clinical and scientific studies to be associated with human diseases. Compared to whole genome or exome sequencing, which yields excessive data with many variants of clinical significance uncertainty, clinical exome testing focuses on phenotype-related genes. Note that the Clinical Exome test does not include the sequencing of mitochondrial DNA genes.
  • The human exome is composed of the complete exonic, or coding region of the genome. Although the exome consists of only approximately 1-2% of the genome, it accounts for approximately 85% of disease-causing pathogenic variants. Changes in amino acid sequence are often the cause of phenotypic variation, making exome sequencing an informative alternative. Traditionally, exome sequencing has been used in gene discovery. However, now with new sequencing technology, clinical applications of exome sequencing has been involved in undiagnosed genetic conditions[1, 2].
  • Genes (6110): Contact ApolloGen Diagnostic Laboratory for listing
    Test Code: 1500
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Clinical Exome
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 10 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81415
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests: None
  • References:
    1. Need, A.C., et al., Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet, 2012. 49(6): p. 353-61.
    2. Yang, Y., et al., Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med, 2013. 369(16): p. 1502-11.

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