 Carrier
Testing Coming SoonCarrier testing, diagnostic testing, and prenatal testing will soon be available in the United States for Infantile Batten Disease. The three tests have previously only been available in Finland. The three tests can be done for the PPT gene mutation plus some other infantile gene point mutations. The Neurogenetics DNA Diagnostic Laboratory at Massachusetts General Hospital, under the direction of Katherine Sims, MD., will be performing the tests. This is the same lab that is currently doing the same three tests for Juvenile Batten Disease and information packs about the testing will be available from the BDSRA office or from the lab in Boston. Remember, it is important that any carrier or prenatal testing be done with the help of a genetic counselor. A genetic counselor will be able to help make the arrangements for taking off samples, shipping, and interpretation of the results. Persons wishing to have testing done for Infantile Batten Disease will soon be able to get the information from the BDSRA office at 1-800-448-4570 or can call the laboratory direct at either 617-726-5721 (Dr. Sims) or Tanisha Robinson, Lab Manager at 617-724-9620. If you need a genetic counselor call the BDSRA office and one will be recommended. It is the position of the Batten Disease Support and Research Association that this information be provided to everyone. The decision to do any kind of testing is up to the individual or family. The results are strictly confidential and BDSRA will have no knowledge of test results. BDSRA cannot pay for any tests.
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