WHICH OI TEST SHOULD I REQUEST?

Choose: COLLAGEN SCREENING
  • For infants with severe osteogenesis imperfecta (OI II or OI III)
  • When your level of suspicion for OI is not high and a least expensive screening test is desired.
Choose: GENOMIC DNA SEQUENCING of COL1A1 and COL1A2
  • For confirmation of the clinical diagnosis of OI, especially mild to moderate forms (OI type I and IV).
  • When identification of a gene mutation is needed for prenatal diagnosis.
  • In the investigation of OI as a possible diagnosis in children with “unexplained fractures”.
Choose: Genomic DNA SEQUENCING of CRTAP and LEPRE1
  • For an infant with clinical and radiographic features of severe OI who have had abnormal type I collagen screening studies but normal COL1A1/2 gDNA sequence.
  • For an affected infant in a family with recurrent OI (in siblings) and parental consanguinity.