Genetic Testing for AHC

In 2012 we were able to announce that the first gene responsible for AHC (ATP1A3) had been found and confirmed! This is exciting news because 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

If you are interested in learning more about genetic testing options for determining whether or not your child may have a mutation in ATP1A3, please contact sharon@ahckids.org and we’ll provide information regarding coordination of testing.

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 under the direction of Dr. Kathryn Swoboda.

We are not currently offering ATP1A3 gene testing for research purposes, however; 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, please contact Jin Yun (Helen) Chen, certified genetic counselor at jin.chen@mgh.harvard.edu for more information. She would be able to help facilitate the testing process and/or referral to local genetics providers or genetic counselors for families for further evaluation and genetic testing, as needed.

NOTE:  Research test for DNA vs CLIA certified test for DNA, what is the difference?

The ATP1A3 research test sample goes through a de-identification process when it is sent to the sequencing lab. It is then re-identified when it comes back. The DNA testing done at a Certified lab called a CLIA lab is the same test, but done without de-identification and where there are FDA certification requirements in place to ensure the persons identity and hopefully limit human error.

Jin Yun (Helen) Chen, MS, CGC
Email: jin.chen@mgh.harvard.edu
Tel: 617-726-4878

Gisel Dannehl
Email: gdannehl@mgh.harvard.edu
Tel: 617-643-6451

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 managed by Dr. Kathryn J. Swoboda. 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, by contacting Jin Yun (Helen) Chen, Genetic Counselor, or Gisel Dannehl, Research Program Coordinator.

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, or for inquiries from families who have previously enrolled in the registry, please contact:

Jin Yun (Helen) Chen, MS, CGC
Email: jin.chen@mgh.harvard.edu
Tel: 617-726-4878

Gisel Dannehl
Email: gdannehl@mgh.harvard.edu
Tel: 617-643-6451