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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Osteogenesis imperfecta


Other Names for this Disease

  • Brittle bone disease
  • Fragilitas ossium
  • OI
  • Vrolik disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for osteogenesis imperfecta?

Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type.[1] Carrier testing may be available to relatives of affected individuals if the type of OI, disease-causing gene, and specific mutation in the affected individual are known.

Prenatal testing for at-risk pregnancies can be performed by analysis of collagen made by fetal cells obtained by chorionic villus sampling (CVS) at about ten to 12 weeks' gestation if an abnormality of collagen has been identified in cells from the affected individual. Analysis of collagen after an amniocentesis (usually performed at 15-20 weeks gestation) is not useful, because the cells obtained do not produce type I collagen. However, prenatal testing can be performed by analyzing the genes (molecular genetic testing) if the specific mutation has been identified in the affected relative.[1]

GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on "Testing" next to the type of OI in which you are interested. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or genetics professional. Genetics professionals, such as genetic counselors, can also explain the inheritance of OI in detail including information about genetic risks to specific family members.
Last updated: 4/5/2012

References
  1. Robert D Steiner, Melanie G Pepin, Peter H Byers. Osteogenesis Imperfecta. GeneReviews. January 28, 2005; http://www.ncbi.nlm.nih.gov/books/NBK1295/. Accessed 10/5/2011.


Testing

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Brittle bone disease
  • Fragilitas ossium
  • OI
  • Vrolik disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.