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
Amelogenesis imperfecta and related disorders NGS panel AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2, WDR72
Del Dup
NGS
Aortic aneurysm, familial thoracic 8 PRKG1
Del Dup
NGS
Bent bone dysplasia syndrome FGFR2
Sanger
Del Dup
NGS
Bruck syndrome 2 PLOD2
Del Dup
NGS
Buschke-Ollendorff syndrome LEMD3
Del Dup
NGS
Camptodactyly, tall stature, and hearing loss syndrome FGFR3
Del Dup
NGS
Camurati-Engelmann disease TGFB1
Del Dup
NGS
Chondrodysplasia punctata and related disorders NGS panel AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
Del Dup
NGS
Chondrodysplasia, Blomstrand type PTH1R
Del Dup
NGS
Cole-Carpenter syndrome 2 SEC24D
Del Dup
NGS
Cole-Carpenter syndrome NGS panel P4HB, SEC24D
Del Dup
NGS
Craniometaphyseal dysplasia, autosomal dominant ANKH
Del Dup
NGS
Craniosynostosis core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1
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
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
Desbuquois dysplasia and related disorders NGS panel B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, IMPAD1, KIF22, SLC26A2, XYLT1
Del Dup
NGS
Desbuquois dysplasia core NGS panel CANT1, CSGALNACT1, IMPAD1, XYLT1
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel ATP7A, BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SLC5A7, TRPV4
Del Dup
NGS
Dyskeratosis congenita NGS panel ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53
Del Dup
NGS
Ectodermal dysplasia NGS panel EDA, EDAR, EDARADD, GJB6, HOXC13, KRT74, KRT85, MSX1
Del Dup
NGS
Ehlers-Danlos syndrome core NGS panel COL3A1, COL5A1, COL5A2
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, ATP7A, CHST14, DSE, FKBP14, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 2 B3GALT6
Sanger
Ehlers-Danlos syndrome, spondylocheiro dysplastic form SLC39A13
Del Dup
NGS
Eiken syndrome PTH1R
Del Dup
NGS
Exudative vitreoretinopathy NGS panel CAPN5, FZD4, KIF11, LRP5, NDP, TSPAN12, ZNF408
Del Dup
NGS
Failure of tooth eruption, primary PTH1R
Del Dup
NGS
FGFR2 related craniosynostosis FGFR2
Del Dup
NGS
Frontometaphyseal dysplasia NGS panel FLNA, MAP3K7, TAB2
Del Dup
NGS
Greig cephalopolysyndactyly syndrome GLI3
Del Dup
NGS
Hereditary hemorrhagic telangiectasia type 1 ENG
Del Dup
NGS
Homocystinuria CBS
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis NGS panel FGF23, GALNT3, KL
Del Dup
NGS
Joubert syndrome and related disorders NGS panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, HNRNPDL, ISPD, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
Del Dup
NGS
Mandibulofacial dysostosis, Guion-Almeida type EFTUD2
Del Dup
NGS
Marfan syndrome and Loeys-Dietz syndrome NGS panel FBN1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Del Dup
NGS
Meier-Gorlin syndrome 1 ORC1
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type PTH1R
Del Dup
NGS
Multiple epiphyseal dysplasia COMP
Sanger
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
Del Dup
NGS
Nail-patella syndrome LMX1B
Del Dup
NGS
Nephrotic syndrome and related disorders NGS panel ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, INF2, ITGA3, ITGB4, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WDR73, WT1
Del Dup
NGS
Noonan spectrum disorder NGS panel A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1
Del Dup
NGS
Osteogenesis imperfecta core NGS panel COL1A1, COL1A2, IFITM5
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 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
Pallister-Hall syndrome GLI3
Del Dup
NGS
Platelet bleeding disorders NGS panel ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1
Del Dup
NGS
Polydactyly, preaxial IV & postaxial, type A1 GLI3
Del Dup
NGS
Pseudoachondroplasia COMP
Sanger
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
Rickets, vitamin D-dependent type I CYP27B1
Del Dup
NGS
Smith-Lemli-Opitz syndrome DHCR7
Sanger
Snyder-Robinson mental retardation syndrome SMS
Sanger
Spondyloepimetaphyseal dysplasia with joint laxity NGS Panel B3GALT6, KIF22
Del Dup
NGS
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GALT6
Sanger
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
Thrombocytopenia NGS Panel ADAMTS13, ANKRD26, AP3B1, CYCS, ETV6, FLI1, FYB, GATA1, HOXA11, ITGA2B, ITGB3, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SRC, TBXAS1, TUBB1, WAS, WIPF1
Del Dup
NGS
Treacher Collins syndrome 1 TCOF1
Del Dup
NGS
Vascular malformations NGS panel ACVRL1, BMPR2, CAV1, CCM2, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, KCNK3, KRIT1, PDCD10, PTEN, RASA1, SMAD4, SMAD9, TEK
Del Dup
NGS
Vitreoretinopathy NGS panel BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FZD4, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408
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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