We have some troubles with the identification of C9orf72 expansion by PCR. Has anyone a better way to detect it?

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Naji Rizik

What exactly is your problem?

It's with the triple primed PCR I'm guessing.

The only way to measure the repeat size is by southern blotting, but you can (not in all cases) know of the existence of an expansion with the triple PCR.

J. Paul Taylor

Southern blot is most reliable but, as Chris states, RP-PCR may also be used.

Ninad Pendse

Asuragen recenty launched a PCR based assay for C9orf72 amplification. You can find more information here: http://asuragen.com/portfolio/genetics/amplidex-pcrce-c9orf72/