Gene 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:

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 and we’ll provide information regarding coordination of testing.

Research Testing for the mutations in the ATP1A3 gene/ Clinical Registry:

For many years the AHCF registry and database has been based at the University of Utah, under the direction of Dr. Kathryn Swoboda. With Dr. Swoboda’s recent move to Boston, we are in the process of moving the AHCF Clinical Research Registry and Biorepository to the Neurogenetics Program in the Center for Human Genetics Research at the Massachusetts General Hospital. During this transitional period, we remain available to answer questions for families already enrolled in the registry. You are already a part of the registry if DNA from you or an affected family member was previously collected. If you are not currently part of the registry or are a new family, enrollment in the registry will be possible, if clinically indicated, once the new program is established within the next few months. During this time, although no new enrollment of patients is possible, we are available to help with identification and referral to local genetics providers for families through which evaluation and genetic testing for ATP1A3 may be pursued.

Clinical Registry Flyer (PDF Format)

For questions regarding enrollment in the AHCF registry and biobank, or for inquires from families who have previously enrolled in the registry, please contact:

Kellie Burke, Research Project Coordinator
Neurogenetics Program (preferred)
(617) 312-8318

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.

CLIA testing for the ATP1A3 gene:

Clinical testing of ATP1A3 mutations for Alternating Hemiplegia of Childhood (AHC) and ATP1A3 related neurologic phenotypes is performed at the Massachusetts General Hospital Neurogenetics Molecular Diagnostic Laboratory, under the direction of Dr. Winnie Xin.  Full ATP1A3 gene sequencing 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. MGH Neurogenetics Molecular Diagnostic Lab has more than 20 years of expertise in performing molecular DNA testing for rare neurogenetic disorders.

If your Neurologist or Genetic Counselor would like to review options for ATP1A3 genetic testing, reduced rates are available through the DNA Diagnostic Lab at MGH/Harvard Medical School. For more information about the testing at Massachusetts General Neurogenetics DNA Diagnostic Lab including sample and shipping information click here.

CLIA Testing Flyer (PDF format)

Contact for pricing and other questions: (617) 726-5721, fax – 724-9620

For questions regarding clinical diagnostic testing, please contact:

Elike Kumahia, Clinical Lab Coordinator
Neurogenetics DNA Diagnostic Lab

Massachusetts General Hospital
Harvard Medical School
185 Cambridge Street, Suite 5300
Boston, MA 02114
(617) 726-5721
(617) 724-9620  fax
NOTE:  Research test for DNA vs CLIA certified test for DNA, what is the difference?

The ATP1A3 test described above is considered a Research test. The 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.