Patent ID: 6548243
Filing Date: 2003-04-15
Classification: G01N

Abstract:
A method of diagnosing a (CAG)n/Qn-expansion disorder in an individual, said method comprising:obtaining a sample from an individual; combining the sample with o-phthaldialdehyde under conditions effective to form a test solution comprising an o-phthaldialdehyde derivative of N&egr;-(L-&ggr;-glutamyl)-L-lysine; and determining whether the test solution contains a concentration of the o-phthaldialdehyde derivative of N&egr;-(L-&ggr;-glutamyl)-L-lysine which is elevated in comparison to a normal concentration of the o-phthaldialdehyde derivative of N&egr;-(L-&ggr;-glutamyl)-L-lysine, wherein an elevated concentration in the test solution indicates that the individual has a (CAG)n/Qn-expansion disorder.