Browse CTGT's catalogue of NGS disorders and panels by disorder name.

O

Occipital horn syndrome ATP7A
Del Dup
NGS
Oculodentodigital dysplasia GJA1
Del Dup
NGS
Odontoonychodermal dysplasia WNT10A
Del Dup
NGS
Ohdo syndrome, SBBYS variant KAT6B
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel (9 genes) AXIN2, EDA, LRP6, LTBP3, MSX1, PAX9, PTH1R, WNT10A, WNT10B
Del Dup
NGS
Omodysplasia 1 GPC6
Del Dup
NGS
Opsismodysplasia INPPL1
Del Dup
NGS
Orofaciodigital syndrome I OFD1
Del Dup
NGS
Osteoarthritis with mild chondrodysplasia COL2A1
NGS
Del Dup
Osteogenesis imperfecta COL1A1 & COL1A2 panel (2 genes) COL1A1, COL1A2
Del Dup
NGS
Osteogenesis imperfecta core NGS panel (3 genes) COL1A1, COL1A2, IFITM5
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant (7 genes) ALPL, ANO5, COL1A1, COL1A2, IFITM5, P4HB, PLS3
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive (23 genes) ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1
NGS
Del Dup

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