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Connective Tissue Disease: Osteogenesis Imperfecta Panel

Test Information

Title
Connective Tissue Disease: Osteogenesis Imperfecta Panel
Category
Connective Tissue
Test Name (CMS Title)
Osteogenesis Imperfecta
Gene/Platform/Region List
ALPL, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1, XYLT2
Test type
Samples Accepted
Blood, DNA
Indications
Diagnosis
Test Methodology
Sequencing
Methodology Notes
Exome
Disease/Condition
OI, Osteogenesis Imperfecta

Last Updated: December 09, 2025