Table 2. Methods of genetic testing for... | American Society of Hematology

Table 2.

Methods of genetic testing for hemophilia

	SNVs/indels	Inv 22	int22h-related complex variants	Inv 1	Large deletions/duplications	Distinguish VWD	Cost per sample, $	Comment
NGS	√				Possible	√	100
LR-PCR/IS-PCR		√	√	√			30	Complex variants may be misdiagnosed
MLPA					√		100
OGM		√	√	√	√		800	Demanding high-quality DNA; resolution limited
PacBio WGS	√	√	√	√	√	√	1350	Low sequencing depth
Comprehensive testing program	√	√	√	√	√	√	100	Identification of fusion fragments and CNVs in homologous regions

	SNVs/indels	Inv 22	int22h-related complex variants	Inv 1	Large deletions/duplications	Distinguish VWD	Cost per sample, $	Comment
NGS	√				Possible	√	100
LR-PCR/IS-PCR		√	√	√			30	Complex variants may be misdiagnosed
MLPA					√		100
OGM		√	√	√	√		800	Demanding high-quality DNA; resolution limited
PacBio WGS	√	√	√	√	√	√	1350	Low sequencing depth
Comprehensive testing program	√	√	√	√	√	√	100	Identification of fusion fragments and CNVs in homologous regions

√, capable; CNV, copy number variation; MLPA, multiplexed ligation-dependent probe amplification; VWD, von Willebrand disease.