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We offer direct sequencing DNA test for mutations in ATP1A3 gene.
The mutations in ATP1A3 have been found to be associated with autosomal dominant movement disorder, Alternating Hemiplegia of Childhood.1,2
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
Analysis is currently available for clinically affected patients as well as laboratory confirmation of the mutations identified by research in AHC patients.
1. Erin L Heinzen et al. 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genetics 44:1030–1034.
2. Hendrik Rosewich et al. 2012 Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. The Lancet Neurology - Volume 11, Issue 9
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