October 7, 1998 

Molecular diagnosis of three common mutations for Late Infantile and Juvenile NCL is offered from New York State Institute for Basic Research, Staten Island, New York.

A fast and reliable DNA-based test is offered from the Neurogenetic Molecular Diagnostic Laboratory, directed by Dr. Nan Zhong who is certified by New York State Department of Health, in New York State Institute for Basic Research, Staten Island, NY.

This test is based upon our recent findings that deletion of 1.02 kb genomic fragment in the CLN3 gene and transition of T523-1 G to C or A and 636 C to T in the CLN2 gene are common mutations and account for more thank two-third JNCL and LINCL patients, respectively in the United States. (Zhong et. al. (1998) Human Genetics 102:57-62, Zhong et. al. (1998) Clinical Genetics, in press).

The test uses polymerase chain reaction (PCR) technology which is fast and reliable to detect specific mutation(s). This test is able to screen for the carrier status of these three mutations. Most importantly, it only requires very little DNA as testing material, which can be offered and is beneficial for prenatal diagnosis.

This test is done on the basis of a research project. The testing results can be reported verbally within a week. No charge will be billed to patients and their families. However, any contribution ($50 per DNA sample is suggested) to support this research is welcome!

For further information, please contact Dr. Nan Zhong (phone: 718-494-5242, or email omrddzhong@aol.com) and Dr. Krystyna Wisniewski (718-454-5202).
 

Larry J. Killen                               Lance W. Johnston 
President                                       Executive Director 

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