Table 2.

Molecular genetic methodologies according to expected ability to detect abnormalities in different genetic settings.

			Next generation sequencing
Abnormality	Sanger sequencing	MLPA	Panel testing#	Whole exome testing	Whole genome testing	Long-read sequencing
Small indels (<50 bp)	Y	Y	Y	Y	Y	Y
Medium indels (50–300 bp)	M*	Y	M*	M*	Y	Y
Large indels (>300 bp)	N	Y	N	N	Y	Y
Mutation in unsuspected gene	N	N	N	Y	Y	Y
Intronic mutation	M**	N	M**	M**	Y	Y
Promoter mutation	M**	N	M**	M**	Y	Y
Pseudogenes	M*	Y	N	N	N	M*
GC-rich genes	M*	N	N	N	N	Y
Triplet repeat disorders	M*	N	N	N	N	Y

^#A selected panel of genes which are sequenced and analysed, does not include ‘virtual panels’ where all genes may be sequenced with only a selected panel of genes being analysed;

^*depends on length;

^**depends on location;

Y, abnormality likely to be detected; M, abnormality may be detected; N, abnormality likely to be missed.