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

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NEW AAP GUIDANCE

Exome & genome sequencing recommended as first-line tests

Genomic sequencing can provide answers that guide your care, ease uncertainty, and empower families navigating rare disease diagnoses. Explore the ways it can support you and your patients.

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Recommended as a first-line test

Updated guidance from The American Academy of Pediatrics (AAP) recommends ordering exome and genome as a first-line tests for children with:1

  • Global developmental delays
  • Intellectual disabilities
Read the updated guidance

Powerful genetic testing, made simple

Many common symptoms have a genetic cause. Ordering exome or genome sequencing as a first-line test can lead to an earlier, more accurate diagnosis—and a clearer path forward for your patients.

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The cost of waiting

Starting with exome or genome sequencing can shorten the path to diagnosis, reducing the need for multiple tests and unnecessary delays. Without early comprehensive testing, patients with rare diseases often face:

5 years
of waiting2

16+
medical tests3

$10,000 in
healthcare costs4

 Flexible options to fit your workflow

As a leader in pediatric exome and genome sequencing, we offer multiple ways to access testing–all designed to meet you where you are.

Option 1: Order directly

Our online portal makes ordering simple, and we’ll guide you every step of the way with:

  • Expert support before, during, and after testing
  • Clear, patient-friendly reports with actionable insights
  • Clinical interpretation and recommendations for next steps

Connect with a local GeneDx representative to get started

Already working with us? Sign into your account here

Option 2: Refer via telehealth

Facing long wait times? Refer your patients to a third-party genetic counselor via telehealth. Appointments are typically available within a week.
Learn more

Option 3: Refer to a local genetic specialist

Prefer to refer? You can connect your patient with a local genetic counselor or geneticist. GeneDx is a trusted choice for specialists nationwide.

See how exome and genome testing can support your practice and your patients.

Sign up to receive updates, clinical insights, and resources from our team.

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Why order from GeneDx?

Expansive in-network
coverage

GeneDx accepts all commercial insurance, Medicaid, Medicare and Tricare plans, making genomic testing accessible for more patients. See who we work with in your region.

In-network health plans

A trusted
partner

For more than 25 years, GeneDx has been the go-to lab when doctors need diagnoses for children with both rare diseases and common conditions.

Read more

An innovator
in healthcare

We’ve contributed to the discovery of over 500 new disease-gene relationships and developed cutting-edge tools for genomic data analysis—bringing clearer answers to more patients.

Learn more

See how exome and genome testing has transformed lives

An ultra-rare condition shared by 142 children

Thanks to exome testing, Bodhi’s doctors discovered the reason for his developmental delay—and a glimpse of what his future will hold.

Bodhi’s story

More than cerebral palsy

Savannah’s cerebral palsy turned out to be caused by a rare genetic condition, revealing her high risk for retinal disease and tethered spinal cord.

Savannah’s story

Early intervention meant everything

Carlotta started regressing at just a few months old. Exome testing finally revealed the cause of her symptoms, guiding more targeted care and informed treatment decisions.

Carlotta’s story

Still have questions?

Many professional societies recommend exome and genome sequencing as first-line tests:

  • The American Academy of Pediatrics (AAP) recommends exome and genome testing as a first-tier test for global developmental delay and intellectual disability.1
  • The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome as a first-tier test for developmental delay, intellectual disability, and congenital anomalies.5
  • The National Society of Genetic Counselors (NSGC) recommends exome or genome sequencing for all individuals with unexplained epilepsy, a guideline endorsed by the American Epilepsy Society (AES).6
  • The International Precision Child Health Partnership (IPCHiP) recommends rapid exome or genome as a first-tier test for NICU patients with unexplained hypotonia.7

Exome sequencing looks at the protein-coding regions of 20,000+ genes to identify genetic variants that may explain a patient’s symptoms or condition Visit our exome page to learn about the benefits of exome sequencing and visit our test catalog to learn more about our testing options.

Genome sequencing looks at the entire DNA sequence, offering the most comprehensive approach to finding the genetic cause of a patient’s symptoms or condition. Visit our genome page to learn about the benefits of genome sequencing and visit our test catalog to learn more about our testing options.

You can find answers to more FAQs here. Our team is also here to walk you through the benefits and the ways we’re making genomic testing easier to access. Submit the form to connect with your local representative.

References: 1. Rodan LH, et al. Pediatrics. 2025; e2025072219. doi:10.1542/peds.2025-072219. 2. Marwaha S, et al. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 3. Hayeems RZ, et al. Genet Med. 2022 Mar;24(3):694-702. doi: 10.1016/j.gim.2021.11.005. 4. Soden SE, et al. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076. 5. Manickam K, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 6. Smith L, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 7. Morton SU, et al. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. PMID: 35254387.