Abnormal mineralization disorders NGS panel ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3, VDR
Del Dup
NGS
Acrofacial dysostosis 1, Nager type (AFD1) SF3B4
Sanger
Del Dup
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL) NOTCH3
Sanger
Craniosynostosis NGS panel EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35
Del Dup
NGS
Dense bone dysplasia NGS panel ANKH, COL1A1, GJA1, HPGD, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, FLG, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, STS, TGM1
Del Dup
NGS
Multiple epiphyseal dysplasia (MED) NGS panel COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Del Dup
NGS
Odontoonychodermal dysplasia (OODD) WNT10A
Sanger
Del Dup
Osteogenesis imperfecta NGS panel - Dominant ALPL, COL1A1, COL1A2, IFITM5, PLS3
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LEPRE1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LEPRE1, LPR5, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, FAM20C, GJA1, HPGD, LEMD3, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
Del Dup
NGS
Osteopetrosis NGS panel AMER1, CA2, CLCN7, CTSK, FAM20C, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) PEX7
Sanger
Del Dup
NGS
Schopf-Schulz-Passarge syndrome (SSPS) WNT10A
Sanger
Del Dup
Skeletal dysplasia - short stature and congenital joint dislocation NGS panel B3GALT6, CANT1, CHST3, FLNB, IMPAD1, SLC26A2, XYLT1
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
Del Dup
NGS
Skeletal dysplasia core NGS panel ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
Del Dup
NGS
Skeletal dysplasia extended NGS panel ARSE, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP13, MMP9, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4
Del Dup
NGS
Stickler syndrome NGS panel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
Del Dup
NGS
Tooth agenesis, selective 4 (STHAG4) WNT10A
Sanger
Del Dup

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