WHICH OI TEST SHOULD I REQUEST?

First: GENOMIC DNA SEQUENCING of COL1A1 and COL1A2
  • For confirmation of the clinical diagnosis of OI.
  • When identification of a gene mutation is needed for prenatal diagnosis or testing of other family members.
  • In the investigation of OI as a possible diagnosis in children with “unexplained fractures”.
Second: COLLAGEN SCREENING
  • As a adjunct test to genomic DNA sequencing 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.
Additional testing: 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.