Carrier testing, diagnostic testing, and prenatal testing is now available for Infantile and Juvenile Batten Disease. The three tests are available for the infantile in Finland. The gene that was identified for the infantile (PPT Gene) is primarily found in persons of Finnish descent. However, the scientists in Finland say that using the information they now have, the three tests can be done for the PPT gene mutation plus other infantile gene point mutations. Anyone interested in testing can contact the BDSRA office and we will help to make the arrangements with Finland.

The same three tests are also now available for Juvenile Batten Disease. As of January 1996 the Neurogenetics DNA Diagnostic Laboratory at Massachusetts General Hospital, under the direction of Katherine Sims, MD., will be performing the tests. The cost per person is $285.00. Information packs about the testing are available from the BDSRA office or from the lab in Boston.

It is of extreme importance that everyone understands that the gene identified for Juvenile Batten (CNL3) is for the 'classic' or textbook form of JNCL. It is the only gene that these tests are good for. There are an unknown number of mutations of this gene. The CNL3 gene is responsible for approximately 73% of the juvenile cases. The others are mutations of this gene. A carrier test that is negative means that the test is negative for this specific gene, not for mutations of the gene. Dr. Terry Lerner and others are currently in the process of trying to identify the various mutations. It is unknown how many mutations there will be. There are 37 mutations of the gene for Cystic Fibrosis. Therefore, 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 can 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. BDSRA has a genetic counselor working with us. 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. There will be at least one other lab doing this same testing in the near future and the price may vary. BDSRA will help to make some arrangements and help locate a genetic counselor. 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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