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Osteogenesis imperfecta and osteoporosis
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Osteogenesis imperfecta and osteoporosis

For any questions regarding clinical issues, please get in contact with Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.

 

Osteogenesis imperfecta

standard panel (#058): autosomal recessive OI, all known genes (4/2017)
BMP1, CREB3L1, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1

(14 genes, 22.6 kb)

 

standard panel (#059): autosomal dominant OI, all genes
1.COL1A1, 2. COL1A2, IFITM5

(3 genes, 8.9 kb)

 

standard panel (#060): Prenatally suspected osteogenesis imperfecta, common dominant and recessive genes
1.COL1A1, COL1A2, IFITM5, 2. ALPL, BMP1, CRTAP, FKBP10, P3H1, PPIB, SERPINF1, SERPINH1, SPARC, TMEM38B, WNT1

(14 genes, 24.85 kb)

 

standard panel (#061): Osteogenesis imperfecta, common genes, unknown mode of inheritance (recessive, X-linked, or dominant due to de novo mutations)
1.COL1A1, COL1A2, IFITM5, 2. BMP1, CRTAP, FKBP10, P3H1, PLS3, PPIB, SERPINF1, SPARC, TMEM38B, WNT1

(13 genes, 23.9 kb)

 

single gene diagnostics:
BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1

 

Osteogenesis imperfecta with additional clinical manifestations

standard panel (#062): Cole-Carpenter syndrome, all known genes
P3H1, P4HB, SEC24D

(3 genes, 6.8 kb)

 

single gene diagnostics:

P3H1, P4HB, SEC24D

 

Early-onset osteoporosis

standard panel (#063): Juvenile or early-onset osteoporosis with dominant or X-linked inheritance - main genes
BMP1, COL1A1, COL1A2, IFITM5, LRP5, PLS3, WNT1

(7 genes, 19.7 kb)

 

single gene diagnostics:

BMP1, COL1A1, COL1A2, IFITM5, LRP5, PLS3, WNT1

 

Complete panel osteogenesis imperfecta and osteoporosis

complete panel (#064):

All genes of our OI-panel (23 genes, 46.1 kb)