Why it matters

Give your patients and their caregivers answers with the help of AmbitCare

30 percent

Seizures and developmental delays can signify a rare disease

About 30% of patients with developmental and epileptic encephalopathies (DEEs) have an underlying genetic cause.1-2

Barriers to genetic testing can delay getting to a complete diagnosis

Only 1 in 20 patients with clinical indications for genetic testing receive a genetic test, and the tests are delayed from the first clinical presentation by 15 months on average.3 Genetic testing can be fast and seamless at no cost with the help of AmbitCare.

7 out of 10

Genetic testing can help with clinical management

72% of genetically diagnosed patients can benefit from changes in clinical management.4-5

dna

Genetic insights can help patients benefit from the latest scientific advances

More than 4,000 disease-associated genes have been found, and about 50 epilepsy-associated genes were newly discovered between 2017-2019 alone.6-7 AmbitCare is here to help you stay up-to-date.

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REFERENCES
  1. Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi:10.1038/gim.2015.186.

  2. Fernández IS, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Diagnostic yield of genetic tests in epilepsy : A meta-analysis and cost-effectiveness study. Neurology. 2019;92(5):e418-e428. doi:10.1212/wnl.0000000000006850

  3. Schroeder, B.E., Gonzaludo, N., Everson, K. et al. The diagnostic trajectory of infants and children with clinical features of genetic disease. npjGenom.Med. 6, 98(2021). doi:10.1038/s41525-021-00260-2

  4. Haviland, I., Daniels, C., Greene, C., et al. Genetic Diagnosis in Pediatric Epilepsy Impacts Medical Management AES 2021; Abstract 2.319.

  5. Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019;142(8):2303-2318. doi:10.1093/brain/awz195

  6. Bamshad MJ, Nickerson DA, Chong JX. Mendelian Gene Discovery: Fast and Furious with No End in Sight. The American Journal of Human Genetics. 2019;105(3):448-455. doi:10.1016/j.ajhg.2019.07.011

  7. Hebbar M, Mefford HC. Recent advances in epilepsy genomics and genetic testing. F1000Research. 2020;9:185. doi:10.12688/f1000research.21366.1