Genetics Testing

Former Member

On another forum I post on, this subject has been brought up several times. However, no-one knows much about it. (what it involves or anything like that) I was wondering, does anyone have any information on this/had this done before?

Thank you.

Former Member

Just to clarify, do you mean testing someone's DNA for susceptibility to diseases? Or am I way off?

Former Member

Yes. I am talking about testing someone's DNA for possible diseases.

Former Member

I haven't experienced it myself, but I did work in a lab researching genetic causes of Parkinson's disease so have a bit of information on the science side of it.

It would normally involve a simple blood test. Is there a specific disease you were thinking about, anything there is a family history of?

Former Member

The condition is Nystagmus. There isn't a family history. (that I know of) I know for some pople, there is a history.

Former Member

From a quick browse it seems that congenital Nystagmus can be inherited in a dominant (one copy - from mother or father - can cause the disease), recessive (two copies are needed) or X-linked (passed on in the X chromosome, therefore only by females) manner. (NCBI).

The inheritance types cannot be distinguished by the severity of the disease. X-linked is apparently the most common cause. One genetic cause for this has been found, where Nystagmus is caused by mutations in the FRMD7 gene.

I'm not sure if a test for these mutations has been developed or is in use currently. Perhaps a doctor might be able to tell you more about this?

People with Nystagmus may not have a detectable genetic cause. Do you want to find out if someone has the disease, or whether it is likely they will develop the disease due to genetic factors? According to what I've read, diagnosis for the condition is normally donne by physical tests rather than biological ones.