New Test Analyzes Highly Curated Set of 236 Genes Most Associated with Autism Spectrum Disorder, Intellectual Disabilities, and Developmental Delay.
HOUSTON, TX (September 12, 2023), Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, today announced the availability of a new Neurodevelopmental Disorders Panel for children and other patients affected by a suspected or clinically diagnosed autism spectrum disorder, intellectual disability, and/or developmental delay. The panel analyzes a clinically curated and targeted set of 236 genes to help healthcare providers and patients achieve a prompt, accurate genetic diagnosis and a better understanding of prognosis and anticipated disease progression.
Baylor Genetics leveraged its genetic expertise and robust datasets to create the Neurodevelopmental Disorders Panel, which joins a growing catalog of disease-specific panels. The panel is performed on an exome backbone capable of extracting a specific subset of genes for clinical reporting. This enables detection of single nucleotide variants, insertions/deletions, and copy number variants at exceptional read depths. If panel results are negative, healthcare providers may request Whole Exome Sequencing allowing for broader analysis to help make a genetic diagnosis.
Neurodevelopmental disorders are multi-faceted conditions characterized by impairments in cognition, communication, behavior, and/or motor skills.1 Impacts from these conditions range from mild impairments to severe disorders requiring lifetime care.2 Autism spectrum disorder is a developmental disability caused by differences in the brain which can cause problems with social communication and interaction, and restricted or repetitive behaviors and habits.3 Intellectual disability involves problems with general mental abilities that affect intellectual and adaptive functioning. 4 A developmental delay is when a child is slow to reach one or more developmental milestones compared to their peers.5
Although neurodevelopmental disorders and delays are typically clinically diagnosed, discovering the genetic cause can reveal other conditions that may affect the patient’s prognosis, management, and treatment. The American College of Medical Genetics and Genomics recommends genetic testing for any individual diagnosed with autism spectrum disorder, intellectual disability, and/or developmental delay.6 Research has reported up to 95% heritability for intellectual disorders.7
“Baylor Genetics’ team of experienced scientists and genetic counselors expertly crafted the Neurodevelopmental Disorders Panel to meet the needs and requests of pediatricians and other healthcare providers who need reliable results and quick turnaround to help support a definitive diagnosis and end a patient’s diagnostic odyssey,” said Christine Eng, MD, Chief Medical Officer and Chief Quality Officer at Baylor Genetics. “This new panel is specifically designed to analyze the most impactful genes involved in neurodevelopmental disorders, helping healthcare providers and families who suspect a neurodevelopmental disorder of genetic origin get the answers they need to improve outcomes.”
In addition to panel testing, Baylor Genetics specializes in Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) – two of the most comprehensive precision diagnostic tests – backed by expert clinical support for actionable treatment guidance. WES is used to understand the cause of a patient’s symptoms (e.g., phenotype) or a disease, especially when faced with a nonspecific presentation that may not be captured in a single panel. WGS goes a step further, providing insights into the entire human genome, including the regions between genes. Both tests can significantly increase diagnostic yield over other types of genetic testing, empowering physicians and patients to make more informed decisions about future care, family planning, or clinical trial eligibility.
“As a trusted partner, Baylor Genetics is committed to helping clinicians serve their patients better by providing data-driven genetic information that is reliable, fast, and actionable,” said Kengo Takishima, President and Chief Executive Officer at Baylor Genetics. “Our new Neurodevelopmental Disorders Panel is part of a comprehensive menu and growing portfolio of tests that reflect our continued focus on scientific excellence, ease of use, and collaboration.”
To learn more or to order the new Neurodevelopmental Disorders Panel, visit the Baylor Genetics website and online ordering portal.
About Baylor Genetics
A pioneer of precision medicine for over 40 years, Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. A joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, which has the #1 NIH-funded Department of Molecular and Human Genetics, Baylor Genetics couples the fastest and most comprehensive precision diagnostics options with the support of genetic counselors to help clinicians and patients avoid a lengthy diagnostic odyssey, guide medical management, and make sure no patient with a genetic disorder gets left behind. Its test menu spans from family planning, pregnancy, neonatal and pediatric testing, oncology, and beyond.
Baylor Genetics is located in Houston’s Texas Medical Center and serves clients in 50 states and 16 countries.
PR Contact
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Sources
- Mullin AP, Gokhale A, Moreno-De-Luca A, et. al. Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes. Translational Psychology. 2013 Dec. 3. PMID: 24301647 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030327/
- (May 2022) https://www.cdc.gov/ncbddd/developmentaldisabilities/facts-about-intellectual-disability.html
- (March 2022) https://www.cdc.gov/ncbddd/autism/signs.html#:~:text=Autism%20spectrum%20disorder%20(ASD)%20is,%2C%20moving%2C%20or%20paying%20attention
- (August 2021) https://www.psychiatry.org/patients-families/intellectual-disability/what-is-intellectual-disability
- (March 2023) https://my.clevelandclinic.org/health/diseases/14814-developmental-delay-in-children
- 0 2. Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. 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 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-
- Lichtenstein, P., Tideman, M., Sullivan, P.F., Serlachius, E., Larsson, H., Kuja-Halkola, R. and Butwicka, A. (2022), Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden. J Child Psychol Psychiatr, 63: 1092-1102. https://doi.org/10.1111/jcpp.13560
