Table 3a Postnatal diagnostics for OI
From: EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
Source | Product | Methods | Comments |
|---|---|---|---|
Blood (preferred) | gDNA | Direct sequencing | |
Mutation scanning (HRM/QPCR) | |||
Deletion/duplication testing (MLPA) | |||
Blood spots | gDNA | Direct sequencing | Very low yield |
Saliva or buccal swabs | gDNA | Direct sequencing | High yield of DNA possible |
Mutation scanning (HRM/QPCR) | |||
Deletion/duplication testing (MLPA) | |||
Fibroblasts | gDNA | Direct sequencing | |
Mutation scanning (HRM/QPCR) | |||
Deletion/duplication esting (MLPA)a | |||
mRNA/cDNA | Sequencing for splice-site errors | ||
Protein | (Pro)collagen type I electrophoresis |
