Neonatal Genetic Testing
Rapid genome and exome testing provides verbal results within 5 - 7 days
When Timing is Crucial
Every minute counts for a baby in the neonatal intensive care unit (NICU). When a diagnosis is unclear, rapid exome or genome testing will cast a broad net to help unlock a definitive diagnosis, even for the most complex cases.
Performing genetic testing at the first clinical indication can shorten the time to a diagnosis, guide immediate changes in medical management, and inform the path forward to optimal care.
Why choose rapid genetic testing?
Not every child with an underlying genetic condition has easily recognizable symptoms
A study found that one-third of babies who received positive results from rapid genome testing was not previously suspected of having a genetic condition.1
This means a significant proportion of babies admitted to the NICU with a genetic condition will go undiagnosed, contributing to a potentially years-long diagnostic odyssey, potentially suboptimal medical decision-making, and missed opportunities for the family to connect with gene-specific support groups, clinical trials and other resources.
Genetic testing can reduce a baby’s time in the NICU and avoid unnecessary diagnostic tests and invasive surgeries
Exome and genome testing has a diagnostic yield of approximately 31% in the NICU setting and can be more cost-effective when ordered early for critically ill newborns.2
On average, genome testing led to approximately $4,000 in patient care savings when a genetic diagnosis was found during a baby’s NICU stay.
Rapid exome or genome testing can empower healthcare providers with answers to guide active and future clinical management decisions
A recent study showed that 32% of babies who received a diagnosis from rapid genome testing had a change in clinical management.3 These immediate management changes included surgeries performed and avoided, medications added, changed, and discontinued, dietary needs identified, and shortened hospital stays.3
Additionally, positive genetic testing facilitates timely specialist referrals, genetics-informed imaging or other indicated screenings, and provision of specific support resources for the family.4
For babies like Elliot, rapid genetic testing informs personalized care and improves health outcomes based on their own unique genetic profile*
Elliot suffered a stroke at birth and required multiple transfusions in the NICU. His care team ordered rapid exome sequencing that discovered a pathogenic change in a gene that causes hemophilia. Elliot was able to immediately begin treatments and his care team adopted hemophilia precautions to better protect him during his NICU stay. After discharge, Elliot’s pediatrician and parents could use this critical information to care for him and establish care with a hemophilia treatment center.
Indications for Testing
Research from NICU settings indicates clear clinical utility and cost savings from rapid exome and genome testing. The diagnostic yield of exome or genome testing is greater than historically recommended tests, like chromosomal microarray (CMA).4
Rapid exome and genome testing should be considered for NICU patients that fit the criteria below:
- Under the age of 1 year and presenting with congenital anomalies
- NICU patients with no history of trauma, infection, or prematurity
- Unclear or atypical presentation of a genetic disorder
- Genetic disorder is suspected
The American College of Medical Genetics and Genomics (ACMG) recommends exome and genome testing as a first-tier test when an infant presents with congenital anomalies.4
Rapid Results, Definitive Diagnoses
GeneDx Xpress tests provide answers, fast. Verbal test results are made available within 5-7 days and the full written report with the summary of the key findings and all clinically-relevant, confirmed variants is issued within 2 weeks. The results of rapid genetic testing can empower providers to offer highly personalized care for critically ill babies and provide specific information for families searching for answers.
Analyzes the coding regions of 20,000 genes (the exome) and identifies copy number variants (CNVs) using a phenotype-driven approach.
A targeted panel that evaluates ~3,500 genes curated for newborns and allows for reflex to full exome analysis.
Support At Every Step
It takes a team to care for patients around the clock, and we are here to help provide access to genetic testing and expert support for you and your patients when it matters the most. Giving these babies the best personalized care and providing clear, specific answers for their families during this difficult time can make all the difference.
For over 20 years, we have been at the forefront of genetic innovation, pioneering new technologies and gene discoveries. Our unmatched experience enables us to offer greater diagnostic accuracy, fewer VUS (variants of uncertain significance), and data-backed answers for your patients.
Our 100+ genetic counselors, MD/PhD scientists, and clinical and molecular genomics specialists enable us to provide clear, accurate, and meaningful test reports, and their deep knowledge is available to assist with questions at every stage of the genetic testing process.
Genetic Counseling Services
We offer pre- and post-test genetic counseling resources through MyGeneTeam, and the post-test counseling is available at no additional charge for your patients when testing is ordered through GeneDx.
Customer & Patient Support
Our customer support team is available to help answer any questions you or your patients may have throughout the testing, billing, and result interpretation process.
Have questions, or want to learn more about our Xpress test options?
Our experienced customer support and team of genetics experts are available to answer any questions you may have throughout the testing process. Call us directly at (888) 729-1206 or email firstname.lastname@example.org.
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*For illustrative purposes only.
1. Wenger, T, et al. SeqFirst – neo: improving access equity for a precise genetic diagnosis in the NICU, ACMG 2022
2. NICUSeq Study Group, Krantz ID, Medne L, et al. Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial. JAMA Pediatr. 2021;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496.
3. Dimmock D, Caylor S, Waldman B, et al. Project Baby Bear: rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021;108(7):1231-1238. doi: 10.1016/j.ajhg.2021.05.008.
4. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6.