Study showing higher loads of MELAS mutation in urine cells

February 9, 2006

A little while ago I mentioned that my " MELAS " A3243G mutation was found by

analysis from urine cells rather than blood or hair and several people were

interested in this method of diagnosis. I just got an article sent to me by a

helpful research scientist at Westmead Childrens Hospital here in Sydney,

explaining the advantages of not only using blood but also urine to diagnose

MELAS. Found it online and here is the link. At least here in Sydney a general

practitioner can order this specific test which here costs only $120 and takes

only 3-4 wks to come back - if you are able to do this just as easily in the

U.S. it may at least help to exclude this particular (common ??) mutation for

those who are searching for diagnosis (although not always conclusive). The

report is available in full text at

is quite clearcut. pamela

February 9, 2006

Thanks Pamela

laurie

> A little while ago I mentioned that my " MELAS " A3243G mutation was found by

> analysis from urine cells rather than blood or hair and several people were

> interested in this method of diagnosis. I just got an article sent to me by

> a helpful research scientist at Westmead Childrens Hospital here in Sydney,

> explaining the advantages of not only using blood but also urine to diagnose

> MELAS. Found it online and here is the link. At least here in Sydney a

> general practitioner can order this specific test which here costs only $120

> and takes only 3-4 wks to come back - if you are able to do this just as

> easily in the U.S. it may at least help to exclude this particular (common

> ??) mutation for those who are searching for diagnosis (although not always

> conclusive). The report is available in full text at

> It is quite clearcut. pamela

>

February 9, 2006

Thanks for this--it would certainly be something to look at as you say to at

least exclude one mutation and is a non invasive choice.

Janet Sample