Abnormal mineralization disorders NGS panel ALPL, ANKH, CASR, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
Del Dup
NGS
Achondrogenesis, type IA TRIP11
Del Dup
NGS
Adams-Oliver Syndrome 1 ARHGAP31
Del Dup
NGS
Adams-Oliver syndrome 3 RBPJ
Del Dup
NGS
Adams-Oliver syndrome 4 EOGT
Del Dup
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
Del Dup
NGS
Arterial calcification, generalized, of infancy NGS panel ABCC6, ENPP1
Del Dup
NGS
Arterial calcification, generalized, of infancy, 2 ABCC6
Del Dup
NGS
Bent bone dysplasia syndrome FGFR2
Sanger
Del Dup
NGS
Bruck syndrome 2 PLOD2
Del Dup
NGS
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
Del Dup
NGS
Camurati-Engelmann disease TGFB1
NGS
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX7
Del Dup
NGS
Chondrodysplasia, Blomstrand type PTH1R
Del Dup
NGS
Cole-Carpenter syndrome 2 SEC24D
Del Dup
NGS
Craniometaphyseal dysplasia, autosomal dominant ANKH
Del Dup
NGS
Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA FBLN5
Del Dup
NGS
Cutis laxa, autosomal recessive IIIA ALDH18A1
Del Dup
NGS
Deletion / Duplication test (Any of the NGS-Del/Dup panel genes)
Del Dup
Dense bone dysplasia NGS panel ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Dyggve-Melchior-Clausen disease DYM
Del Dup
NGS
Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, type VI PLOD1
NGS
Eiken syndrome PTH1R
Del Dup
NGS
Failure of tooth eruption, primary PTH1R
Del Dup
NGS
FGFR2 related craniosynostosis FGFR2
Del Dup
NGS
Greig cephalopolysyndactyly syndrome GLI3
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
Del Dup
NGS
Homocystinuria CBS
Del Dup
NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Metaphyseal anadysplasia NGS panel MMP13, MMP9
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
Del Dup
NGS
Multiple epiphyseal dysplasia COMP
Sanger
Del Dup
NGS
Neurofibromatosis type I NF1
Del Dup
NGS
Next Generation Sequencing (Any of the NGS panel Genes)
NGS
Noonan spectrum disorder NGS panel BRAF, CBL, HRAS, KRAS, LTZR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Orofaciodigital syndrome I OFD1
Del Dup
NGS
Osteogenesis imperfecta, PLS3 related PLS3
Del Dup
NGS
Osteogenesis imperfecta, type XIII BMP1
Del Dup
NGS
Osteopetrosis and Dense bone dysplasia NGS panel AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, 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, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
Osteopetrosis with renal tubular acidosis 3 CA2
Del Dup
NGS
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 CLCN7
Del Dup
NGS
Osteopetrosis, autosomal recessive 1 TCIRG1
Del Dup
NGS
Osteopetrosis, autosomal recessive 2 TNFSF11
Del Dup
NGS
Osteopetrosis, autosomal recessive 6 PLEKHM1
NGS
Paget disease of bone and related disorders NGS panel HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Pallister-Hall syndrome GLI3
Del Dup
NGS
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Pseudoachondroplasia COMP
Sanger
Del Dup
NGS
Pseudoxanthoma elasticum ABCC6
Del Dup
NGS
Pseudoxanthoma elasticum NGS panel ABCC6, GGCX
Del Dup
NGS
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency GGCX
Del Dup
NGS
Pulmonary hypertension, primary, 1 BMPR2
Del Dup
NGS
Pulmonary venoocclusive disease 1, autosomal dominant BMPR2
Del Dup
NGS
Pulmonary venoocclusive disease 2, autosomal recessive EIF2AK4
Del Dup
NGS
Rhizomelic chondrodysplasia punctata, type 2 GNPAT
Del Dup
NGS
Rickets, vitamin D-dependent type I CYP27B1
Del Dup
NGS
Robinow syndrome NGS panel DVL1, ROR2, WNT5A
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, type 2 OFD1
Del Dup
NGS
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel EZH2, GPC3, NFIX, NSD1, OFD1, PIGA
Del Dup
NGS
Skeletal dysplasia ciliopathy NGS panel DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
Del Dup
NGS
Smith-McCort dysplasia DYM
Del Dup
NGS
Sotos syndrome 1 NSD1
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22
Sanger
Del Dup
NGS
Steel syndrome COL27A1
Sanger
Del Dup
NGS
Stuve-Wiedemann syndrome LIFR
Del Dup
NGS
Thanatophoric dysplasia, type I / II FGFR3
Sanger
Del Dup
NGS
Three M syndrome 1 CUL7
Del Dup
NGS
Three M syndrome 2 OBSL1
Del Dup
NGS
Treacher Collins syndrome 1 TCOF1
Del Dup
NGS
Weaver syndrome EZH2
Del Dup
NGS
Weill-Marchesani syndrome 1 ADAMTS10
Del Dup
NGS
Weill-Marchesani syndrome 3 LTBP2
Del Dup
NGS
Weill-Marchesani-like syndrome ADAMTS17
Del Dup
NGS

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