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GeneDx offers more than a test. We’re dedicated to advancing the field of genomics—so more patients get answers.

Exome and genome sequencing: Recommended by clinical guidelines

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 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:1

  • 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:2

  • 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:2

  • 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:3

  • NICU patients with unexplained hypotonia

Read the guidelines

References: 1. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 2. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 3. 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.