New AAP Guidance: Exome and genome sequencing recommended as first-line tests. Learn more

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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.

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 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

Read the guidelines

National Society of Genetic Counselors

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

  • unexplained epilepsy

Read the guidelines

American Epilepsy Society

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

  • unexplained epilepsy

Read the endorsement

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

Read the consensus statement

References: 1. Rodan LH, et al. Pediatrics. 2025; e2025072219. doi:10.1542/peds.2025-072219. 2. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 3. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 4. Morton SU, Christodoulou J, Costain G, et al. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. PMID: 35254387.