Table 3b Prenatal and preimplantation genetic diagnosis for OI
From: EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Source | Product | Methods |
|---|---|---|
CVS | gDNA | Direct sequencing |
Mutation scanning (HRM/QPCR) | ||
Deletion/duplication testing (MLPA) | ||
Protein | (Pro)collagen type I electrophoresis | |
Amniocytes | gDNA | Direct sequencing |
Mutation scanning (HRM/QPCR) | ||
Deletion/duplication testing (MLPA) | ||
Blastocysts | gDNA | Sequencing of known familial mutations |
