Table 2.

Summary of meltMADGE findings for LDLR exon 3 in 460 unrelated familial hypercholesterolemia previously scanned by SSCP

Mutation	Original detect method	No. of subjects	Detection by meltMADGE	Classified band pattern
delGT196_197 (fsV45)^a	Not detected by SSCP	1	Yes	7
W66G	Detected	5	Yes	7
C68Y	Detected	3	Yes	3
D69G	Detected	2	Yes	4
fsE80	Detected	3	Yes	6
E80K	Detected	27	Yes	5
C83F^a	Not detected by SSCP	1	Yes	5
313+1G→A	Detected	29	Yes	2

Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population