Is genetic testing available for Landau-Kleffner syndrome (LKS)?
A single underlying genetic cause has not been identified for all individuals with LKS, therefore routine genetic testing is currently not available. Studies investigating the underlying genetic cause of LKS have identified mutations within the GRIN2A gene. Researchers additionally suspect that mutations within the RELN, BSN, EPHB2, and NID2 gene(s) might be involved.
Last updated: 6/10/2016
How is Landau-Kleffner syndrome (LKS) diagnosed?
LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All children with LKS have abnormal electrical brain activity on both the right and left sides of their brains. Brain MRI and audiometry might additionally be useful tools to assist in diagnosis and management. 
Last updated: 6/10/2016
Is genetic testing available for autism spectrum disorders (ASD)?
Genetic testing can determine the cause of some cases of ASD. Currently, a genetic cause can be identified in 20% to 25% of children with ASD. The cause of ASD in the remaining 75% to 80% remains unknown. Genetic testing can help determine if a person has ASD caused by a chromosome abnormality or a single-gene disorder. Large chromosome abnormalities have been seen in about 5% of those with ASD; smaller deletions or duplications of genetic material has been found in about 10-20%; single gene disorders have been found in about 5% of those with ASD. Despite intensive research, no specific gene has been solely associated with ASD.
GeneTests lists the names of laboratories that are performing genetic testing for ASD. To view the contact information for the clinical laboratories conducting testing, click here.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 10/19/2011
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
Conroy J1, McGettigan PA, McCreary D, Shah N, Collins K, Parry-Fielder B, Moran M, Hanrahan D, Deonna TW, Korff CM, Webb D, Ennis S, Lynch SA, King MD. Towards the identification of a genetic basis for Landau-Kleffner syndrome. Epilepsia. Jun 2014; 55(6):858-65. http://www.ncbi.nlm.nih.gov/pubmed/24828792.