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GTR Home > Tests > Exome Sequencing

Overview

Test name

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Exome Sequencing

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Prognostic, Recurrence, Screening

Condition

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Click Indication tab for more information.

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/tests/670

Specimen source

Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Clinical whole-exome sequencing for the diagnosis of mendelian disorders. - PubMed ID: 24088041

Clinical validity

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Exome sequencing has been observed to identify the underlying genetic defect in approximately 25 – 35% of patients referred for evaluation of a possible genetic condition

Citations
  • Clinical whole-exome sequencing for the diagnosis of mendelian disorders. - PubMed ID: 24088041

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom mutation-specific/Carrier testing

Clinical resources

Practice guidelines

  • ACMG, 2021
    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
  • ACMG, 2021
    Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
  • AAP, 2014
    Comprehensive evaluation of the child with intellectual disability or global developmental delays
  • Retired, AAN/CNS, 2011
    Retired: Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.