Table 6. [CSTB Technical Considerations]. - GeneReviews®

Technical Issue	Comment [Reference]
Sequence of repeat	CCC-CGC-CCC-GCG
Methods to detect expanded allele (See Table 7.)	Southern blotting [Lalioti et al 1997] & PCR for expanded repeat analysis [Joensuu et al 2007] have been described.
Somatic instability	There is no evidence for substantial somatic instability of the expanded repeat.
Germline instability	Expanded repeats show some instability in germline transmissions, w/both contractions & expansions implied. No tendency for expansion in successive generations has been reported.

From: Progressive Myoclonic Epilepsy Type 1

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