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Clinical Practice Guidelines

Exome and genome sequencing: Recommended by leading professional societies

Many professional societies recommend exome and genome sequencing as first-line tests, which can be ordered as soon as symptoms or features are identified.

Clinical Practice Guidelines
American Academy of Pediatrics

The American Academy of Pediatrics (AAP) recommends exome and genome testing as a first-tier test for:1

  • global developmental delay
  • intellectual disability
Learn more
Read the clinical report
American Epilepsy Society

The American Epilepsy Society (AES) endorses the NSGC guideline recommending exome or genome sequencing for individuals with:3

  • unexplained epilepsy
Watch
American College of Medical Genetics and Genomics

The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome as a first-tier test for:2

  • developmental delay
  • intellectual disability
  • congenital anomalies
Watch
National Society of Genetic Counselors

The National Society of Genetic Counselors (NSGC) recommends exome or genome sequencing for all individuals with:3

  • unexplained epilepsy
Watch
International Precision Child Health Partnership

The International Precision Child Health Partnership (IPCHiP) recommends rapid exome or genome as a first-tier test for:4

  • NICU patients with unexplained hypotonia
Watch

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