Interested in the neuro-degenerative genetic Spielmeyer-Vogt-Sjogren-Batten disease. Have learned that a test is available that will identify 73% of Batten disease (juvenile neuronal ceroid-lipofuscinosis) carriers by detecting a deletion of a gene on chromosome 16, CLN3. I understand that mutants of this gene are not detectable using the current test. What is the nature of the test? [immunoassay? electrophoretic? HPLC? ??] What are the requirements for the specimen? Post mortem testing possible? If an affected individual were tested, could the current test distinguish whether both copies of chromosome 16 were in the detectable 73%? Or would the test tell only that a detectable defect exists on at least one chromosome? Do I need to contact an organization or doctor in Finland for the latest information? If so, how? I am already aware of the Batten Disease Support and Research Association www.bdsra.org>
Thank you for your service. :-) SS
Wish I could give you the answer to your question but it is too specific and I do not know the specifics of testing but I will provide you with some information to help:
National Batten Disease Registry
1050 Forest Hill Rd
Staten Island, NY, 10314-6399
718 494 5201
They have information on genetic counseling and diagnostic testing
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