The sister of my girlfriend gave birth to a baby suffering Lowe syndrom. The baby who is now a child of 5 years old had been diagnosticed by his symptoms (cataracts at birth, problems with his kidneys, mental problems+convulsions and more medical tests that I'm not aware of). Just to give you an idea about how the child is now: he doesn't say a word, doesn't look at you in your eyes (though he can see at least "light" since he moves his head toward sources of light), doesn't walk nor take objects with his hands, etc. The mother had been told that there exist a genetical test that could be done in the USA (she's from Argentina) that costs 1000 dollars -too much for her- and could be a very accurate diagnostic. So she never did the genetical test, although absolutely all symptoms the child suffers are according to Lowe syndrom; even the photos and videos on the Internet of children with this symptoms are so similar to the child that it's hard to doubt about the diagnostic. The problem is that my girlfriend might have the defectuous gene causing this syndrom, and she might eventually transmit it to our probable future child. I asked my mother in France to ask in the hospital if they can do a genetic test and apparently there's only 1 place in mi city, but the doctor who do the test needs the genetic profile of the child of the sister of my girlfriend. Because otherwise "she doesn't know what to look for". Unfortunately we do not have the genetic profile of this child nor we will get it. I was wondering if it's absolutely needed in order to genetically test my girlfriend to have the genetic profile of the child. On wikipedia (I know it can't be trusted... but still...), one reads . I don't really understand wheather they mean it's possible to do a genetical test or not. My girlfriend is already 30 years old (I'm 24) and we're planning to have some baby in the next few years. Not knowing if we could do one is a bit painful. I don't really know where to head now... what do you have to say? P.S.:In Argentina, as far as we know, there's no way to get a genetical test even of the children suffering from Lowe syndrom. The diagnostic is 100% clinical. This information comes from the largest children's hospital in Buenos Aires (Garrahan's hospital).