The syndrome 
| The syndrome |
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Page 5 of 5 DiagnosisThe diagnosis of the disease can be done with a geneticist. After taking blood samplings, and after a month of analysis, the result will be given to you. The principle is based on the method called “FISH”.It is a method that s often used in genetic research. In the William’s syndrome, several genes are missing in one of two copies of your chromosome 7. Especially the gene of the protein “elastine” is missing. This gene is copied and marked with a fluorescent dyeing. This unit plays the role of probe. After the probe had been added to the DNA of your sample blood, an increase in heat makes it possible to duplicate in two bits. If the sequence of the DNA of probe (ELN) corresponds to a sequence complementary to your DNA, then the probe will be paired with your DNA, and the unit will arise definitely fluorescent under a microscope. If two fluorescent spots are observed, corresponding to two genes of your two copies of DNA, you do not have the SW. On the other hand, if it is observed that there is only one fluorescent spot, this means that one copy of the ELN gene is missing, and thus you are SW. This diagnosis is easy to undertake and reliable. |
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