A genetic diagnosis can help you shape and personalize care pathways.
Exome and genome sequencing can uncover the root cause and provide a precise diagnosis for patients with cerebral palsy—often in just weeks.
Every year, 10,000 children are diagnosed with cerebral palsy,4,5 yet for most, the cause remains unknown.6
Historically, birth-related issues, such as asphyxia and trauma, were seen as the primary cause of cerebral palsy. More recent research has revealed that’s not the case. In fact, less than 10% of cerebral palsy cases are the result of birth asphyxia.3
For up to one-third of cerebral palsy patients, genetic testing can identify the cause.1-3
Exome and genome sequencing are more likely than other genetic tests to uncover an additional diagnosis.
The diagnostic rate of exome testing is 4x greater than chromosomal microarray for cerebral palsy.1
23% of patients diagnosed via exome testing would not have received a diagnosis with a genetic panel.9
Exome and genome sequencing can reveal the genetic cause of cerebral palsy, helping to shape more precise, informed care.
A definitive diagnosis can guide a more tailored approach for:12
Exome and genome sequencing can uncover the root cause of a patient’s cerebral palsy and may also reveal a co-occurring condition.1 If you don’t test, you just don’t know.
CASE STUDY:
William missed some early motor milestones, experienced speech delays and stiff muscles, and exhibited behaviors consistent with autism.
Ordering exome sequencing as a first-line genetic test could have uncovered answers in just 4 weeks.
But because William’s doctors waited for signs and symptoms, it took over 7 years—and the onset of seizures—to receive a definitive diagnosis.†
Every day, GeneDx helps patients with cerebral palsy find the root cause. With over 750,000 clinical exomes and genomes sequenced, there’s a reason GeneDx is the go-to lab when providers need genetic diagnoses. Our database is unmatched.
Cerebral palsy (CP) is a neurodevelopmental disorder that affects motor development . Cerebral palsy can result in abnormalities in movement, coordination, tone, reflexes, posture, and/or balance.11
Diagnosis of cerebral palsy is often based on signs and symptoms. Recent research shows that a genetic test could enable the most definitive diagnosis.1-3
Historically, birth-related issues, such as asphyxia and trauma, were seen as the primary cause of cerebral palsy. More recent research has revealed that’s not the case. In fact, less than 10% of cerebral palsy cases are the result of birth asphyxia.3 Instead, for up to one-third of cerebral palsy patients, a genetic condition was identified as the cause.1-3
Studies have demonstrated that ~30% of individuals with cerebral palsy (CP) have a genetic variant that explains their clinical diagnosis of CP.1-3
Patients with cerebral palsy often have complex medical needs. Common co-occurring conditions include intellectual disability, epilepsy, and autism spectrum disorder.8
†Case study is based on GeneDx patient testing, with all identifying information removed.
References: 1. Srivastava S, Lewis SA, Cohen JS, et al. JAMA Neurol. 2022 Dec 1;79(12):1287-1295. 2. Gonzalez-Mantilla PJ, Hu Y, Myers SM, et al. JAMA Pediatrics. 2023 May 1;177(5):472-478. 3. Moreno-De-Luca A, Millan F, Pesacreta DR, et al. JAMA. 2021;325(5):467-475. doi:10.1001/jama.2020.26148. 4. Durkin MS, Benedict RE, Christensen D, et al. Pediatric Perinat Epidemiol. 2016 Sep;30(5):496-510. 5. Maenner MJ, Blumberg SJ, Kogan MD, et al. Ann Epidemiol. 2016 Mar;26(3):222-6. 6. Lewis SA, Ruttenberg A, Iyiyol T, et al. EBioMedicine. 2024 Aug;106:105229. 7. Fehlings DL, Zarrei M, Engchuan W, et al. Nat Genet. 2024 Apr;56(4):585-594. 8. van Eyk CL, Fahey MC, Gecz J. Nat Rev Neurol. 2023 Sep;19(9):542-555. 9. Dillon OJ, Lunke S, Stark Z, et al. Eur J Hum Genet. 2018 May;26(5):644-651. doi: 10.1038/s41431-018-0099-1. 10. Srivastava S, Cole J, Cohen J, et al. Ann Neurol. 2024 96:900-913. 11. Rosenbaum P, Paneth N, Leviton A, et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol. 2007;109:8–14.
