Ordering exome as a first-line test can expedite diagnosis to inform prognosis, identify support needs, and connect families with gene-related support groups and resources sooner.
Up to 37% diagnostic yield for patients with autism who present with additional clinical features such as intellectual disability, developmental delay, congenital anomalies, and epilepsy4-6
GeneDx offers three exome sequencing options: XomeDx®, XomeDx® Plus, and XomeDxXpress®.
In a study of more than 18,000 patients with autism who received exome sequencing,6 90% had at least one prior negative genetic test, suggesting that previous tests did not resolve all clinical questions.
Guidelines recommend exome as a first-line test for patients with conditions that often co-occur with ASD.
The American College of Medical Genetics and Genomics recommends exome or genome as a first-tier test for developmental delay, intellectual disability, and congenital anomalies.7
The National Society of Genetic Counselors recommends exome or genome sequencing for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society.8
Guidelines recommend exome as a first-line test for patients with conditions that often co-occur with ASD.
The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome as a first-tier test for individuals with developmental delay, intellectual disability, and congenital anomalies.7
The National Society of Genetic Counselors (NSGC) recommends exome or genome for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society (AES).8
Oliver didn’t meet normal toddler milestones, including speaking and walking. He was identified to have autism spectrum disorder and expressive language delay.†
†Case study is based on GeneDx patient testing, with all identifying information removed.
References: 1. Khachadourian V, et al. Transl Psychiatry. 2023 Feb 25;13(1):71. 2. Arteche-López A, et al. Genes. 2021(12):560. 3. Ní Ghrálaigh F, et al. J Autism Dev Disord. 2023 Jan;53(1):484-488. 4. Srivastava S, et al. Genet Med. 2019 Nov;21(11):2413–2421. 5. Tammimies K, et al. JAMA. 2015 Sep 1;314(9):895-903. 6. Lindy A, et al. Evaluation of 18,911 individuals with autism reveals that exome analysis provides higher diagnostic rates and reduced time to diagnosis than traditional testing strategies. Poster presented at: AAN 2022 Annual Meeting; April 24-26, 2022; Seattle, WA. 7. Manickam K, et al. Genet Med. 2021;23(11):2029-2037. 8. Smith L, et al. J Genet Couns. 2023 Apr;32(2):266-280.
