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Diagnostics

Before NCL is correctly determined, there are often many misdiagnoses. NCL cases are known worldwide, there are many presumed cases in some countries, but they don’t have the diagnostics. The early diagnosis of NCL enables the families to prepare themselves for the course of this fatal disease. It is also important to consider possible further genetic mutations in further family planning.

Certain forms of NCL can be detected with a simple enzyme test. Further information can be obtained by a blood smear (vacuoles in lymphocytes). In very rare forms an electron microscope is also used. The final diagnosis is reached through the detection of the mutation at the DNA level through specific PCR reactions.


Please also visit these sites for further information:

NCL Diagnostic Algorithm:

http://www.dem-child.eu/index.php/ncl-diagnostic-algorithm.html

Further information:

http://www.ucl.ac.uk/ncl/algorithms.shtml

 

 

Kingsmore PreventionChip

Furthermore the foundation ‘Beyond Batten Disease Foundation’ has got a diagnostic chip off the ground, which will educate the operator about various serious autosomal recessive inherited diseases. Everybody possesses a certain number of these genetic defects in one allele. The genetic test can already detect almost 600 serious hereditary diseases prior to conception. Couples with the desire to have children could therefore discover whether their offspring would be affected.

In January 2011 the researcher Stephen Kingsmore published the chip in the specialist magazine Science Translational Medicine. The Kingsmore Diagnostic Chip is currently in the clinical testing phase. The investigation into recessive carrier status (such as in NCL) falls under the Genetic Engineering Act for predictive genetic measures and therefore must be carried out under statutory requirements, as there are many medical and ethical issues. Also due to the ongoing debate about preimplantation genetic diagnosis (PGD), this chip has become an even hotter topic. The FAZ published an article under the title ‘My Genes, Your Genes’ about the research project, which you can find here (German).

Do you want to discover more about the Kingsmore Prevention Chip? You can find further information here.

Contact Person

Dr. Frank Stehr 

Dr. Frank Stehr

Phone: +49 (0)40-69 666 74-10

Mobile:  +49 (0)178-3416057 

Mail:    frank.stehr@ncl-stiftung.de

This German - English translation was done by the translators Tizzy Mann, Andrea Murphy, Kate Humby and Marcia Neff for the PerMondo initiative that involves providing free translations for NGOs. PerMondo is sponsored and run by the translation agency Mondo Agit.