Genetic Testing for AHC

The first gene responsible for AHC (ATP1A3) was discovered in 2012. Over 75% of those suffering with AHC have a mutation in this gene.  The paper describing this finding can be found here: http://www.newswise.com/articles/gene-mutations-identified-as-cause-of-most-cases-of-rare-disorder-ahc Testing for the mutations in the ATP1A3 gene/ Clinical Registry: Currently, AHCF Clinical Research Registry and Biorepository are based at the Neurogenetics Program and the Center for Genomic Medicine at the Massachusetts General Hospital/Harvard. Clinical testing of the ATP1A3 mutations for Alternating Hemiplegia of Childhood (AHC) and ATP1A3 related neurologic phenotypes gene is commercially available. Full ATP1A3 gene sequencing and deletion/duplication analysis should be considered with neurologic phenotypes including classic AHC, RDP, CAPOS syndrome or more atypical cases associated with the abrupt onset of persistent neurologic symptoms including ataxia, dystonia, chorea and dysarthria in the setting of an acute illness or stressor. If you are interested in clinical testing for affected child or at risk family members, ask your provider who the clinical  genetics testing lab is for your particular hospital. Many insurances now will cover the cost or provide a lower cost to the patient for whole genome sequencing. Invitae https://www.invitae.com/en is one company that provides free genetics testing for epilepsy patients with the ATP1A3 gene being covered under that umbrella. Jin Yun (Helen) Chen is a certified genetics counselor at Mass General/Harvard and is available for appointments to discuss genetic testing results and consultations with families.  jin.chen@mgh.harvard.edu  She would also be able to facilitate a referral to local genetics providers or genetic counselors for families for further evaluation and genetic testing, as needed. Jin Yun (Helen) Chen, MS, CGC Email: jin.chen@mgh.harvard.edu

The AHCF Biobank and Clinical registry is the official US AHC biobank and clinical registry, housing the largest number of AHC DNA samples and clinical data in the world.

AHC Clinical Registry All individuals with Alternating Hemiplegia of Childhood (AHC) are invited to join the AHC Registry coordinated at the Massachusetts General Hospital. This Clinical Registry houses the largest medical database of AHC patient’s in the world. The purpose of the registry is to facilitate enrollment of patients to obtain robust natural history data and standardized outcome measures to facilitate consistent collection of longitudinal follow up data in order to better understand the diagnosis and prognosis of AHC. The collection of robust consistent natural history data is important for us as a community to better understand the variability associated with AHC to promote early diagnosis, medical management and support for future clinical trials. Registration involves a questionnaire that may be completed online or over the phone. The primary benefit to enroll in the AHC Registry is that you will be contacted as soon as we launch any AHC related research studies in which you may be eligible to participate, or as soon as there are new treatment available for AHC. The secondary benefit is that you will know that you are accounted for in the AHC Registry. Additionally, this will also provide us with an accurate “head count” of all people with AHC. Knowing how many people have the disease is an important piece of information for obtaining funding of studies on AHC.

Completing the AHC Registry form takes about 20-30 minutes. Please do not hesitate to contact us by email or phone if you have any questions regarding enrollment in the AHCF registry and biobank.

For inquiries from families who have previously enrolled in the registry, and subsequent testing results please contact: Jin Yun (Helen) Chen, MS, CGC  Email: jin.chen@mgh.harvard.edu