What is the role of lab tests in the workup of osteogenesis imperfecta (OI)?

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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Answer

Results from routine laboratory studies in patients with osteogenesis imperfecta (OI) are usually within reference ranges, and they are useful in ruling out other metabolic bone diseases.

An analysis of type I, III, and V collagens synthesized by fibroblasts may be helpful. Collagen synthesis analysis is performed by culturing dermal fibroblasts obtained during skin biopsy. The occurrence of false-negative results is not clear, though the rate may be about 15%. Results are negative in syndromes resembling OI.

Tests include the following:

  • Sodium dodecyl sulfate–polyacrylamide gel electrophoresis (SDS-PAGE)
  • Two-dimensional SDS-PAGE
  • Cyanogen bromide (CNBr) mapping
  • Thermal stability studies

An analysis of the amino acid composition of collagens may be useful.

DNA blood testing for gene defects has an accuracy of 60-94%. Antenatal DNA mutation analysis can be performed in pregnancies with risk of OI to analyze uncultured chorionic villus cells. Samples are obtained during chorionic villus sampling performed under ultrasonographic (US) guidance when a mutation in another member of the family is already known.


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