Osteogenesis Imperfecta, Type III

Show alternative names & symbols

Disorders Symbol MIM Links
  • Osteogenesis Imperfecta, Type III
    • Oi, Type III
    • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
  • OI3
    • OI3
Genes Symbol MIM HGNC Links
  • collagen, type I, alpha 1
    • COL1A1/PDGFB fusion gene, included
    • collagen of skin, tendon, and bone, alpha-1 chain
    • collagen, type I, alpha-1
  • COL1A1
    • OI4
  • collagen, type I, alpha 2 chain
    • collagen of skin, tendon, and bone, alpha-2 chain
    • collagen, type I, alpha 2
    • collagen, type I, alpha-2
  • COL1A2
    • OI4
Gene dossier
Specialties
  • Clinical Genetics

1 laboratory offers this test:

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Service level Referral category Laboratory Calendar Days NHS Price
Testing for known mutations in family members

Note: COL1A1 or COL1A2

 Postnatal Diagnosis Urgent Sheffield RGC 10 £155
Testing for known mutations in family members

Note: COL1A1 or COL1A2 (inc MCC)

 Prenatal Diagnosis Sheffield RGC 3 £450
Sequencing of the entire coding region of gene (s)

Note: COL1A1 & COL1A2

 Postnatal Diagnosis Routine Sheffield RGC 60 £850
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