Acromesomelic dysplasia, Hunter-Thompson type (AMDH) GDF5
Sanger
Del Dup
Adams-Oliver Syndrome 1 (AOS1) ARHGAP31
Sanger
Del Dup
Adams-Oliver syndrome 1 / 2 / 3 / 4 / 5 (AOS1 / AOS2 / AOS3 / AOS4 / AOS5) ARHGAP31, DOCK6, EOGT, NOTCH1, RBPJ
Sanger
Del Dup
Adams-Oliver syndrome 2 (AOS2) DOCK6
Sanger
Del Dup
Adams-Oliver syndrome 3 (AOS3) RBPJ
Sanger
Del Dup
Adams-Oliver syndrome 4 (AOS4) EOGT
Sanger
Del Dup
Adams-Oliver syndrome 5 (AOS5) NOTCH1
Sanger
Del Dup
Alagille syndrome 1 (ALGS1) JAG1
Sanger
Del Dup
Alagille syndrome 2 (ALGS2) NOTCH2
Sanger
Del Dup
Alport syndrome, X-linked (ATS) COL4A5
Sanger
Del Dup
Amelogenesis imperfecta, type IV (AI4) DLX3
Sanger
Del Dup
Anauxetic dysplasia
Deletion / Duplication testing added!
RMRP
Sanger
Del Dup
Aortic aneurysm, familial thoracic 3 (AAT3) TGFBR2
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6 (AAT3 / AAT4 / AAT5 / AAT6) ACTA2, MYH11, TGFBR1, TGFBR2
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic 4 (AAT4) MYH11
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic 5 (AAT5) TGFBR1
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) TGFBR1, TGFBR2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3), SMAD3 & TGFB2 related SMAD3, TGFB2, TGFBR1, TGFBR2
Sanger
Del Dup
Aortic aneurysm, familial thoracic 6 (AAT6) ACTA2
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic 7 (AAT7) MYLK
Sanger
NGS
Aortic aneurysm, familial thoracic 8 (AAT8) PRKG1
Sanger
Del Dup
Aortic aneurysm, familial thoracic, SMAD3 related SMAD3
Sanger
Del Dup
NGS
Aortic aneurysm, familial thoracic, TGFB2 related TGFB2
Sanger
Del Dup
NGS
Aortic valve disease 1 (AOVD1) NOTCH1
Sanger
Del Dup
Arterial calcification, generalized, of infancy, 1 (GACI1) ENPP1
Sanger
Del Dup
Arterial calcification, generalized, of infancy, 1 / 2 (GACI1 / GACI2) ABCC6, ENPP1
Sanger
Del Dup
Arterial calcification, generalized, of infancy, 2 (GACI2) ABCC6
Sanger
Del Dup
Arterial tortuosity syndrome (ATS) SLC2A10
Sanger
Del Dup
NGS
Bent bone dysplasia syndrome (BBDS) FGFR2
Sanger
Del Dup
Brittle cornea syndrome 1 (BCS1) ZNF469
Sanger
Del Dup
Brittle cornea syndrome 2 (BCS2) PRDM5
Sanger
Del Dup
Buschke-Ollendorff syndrome (BOS) LEMD3
Sanger
Del Dup
Caffey disease COL1A1
Sanger
NGS
Camurati-Engelmann disease (CED) TGFB1
Sanger
Cantu syndrome ABCC9
Sanger
Del Dup
Capillary malformation arteriovenous malformation (CMAVM) RASA1
Sanger
Del Dup
Cardiac valvular dystrophy, X-linked (CVD1) FLNA
Sanger
Cartilage-hair hypoplasia (CHH)
Deletion / Duplication testing added!
RMRP
Sanger
Del Dup
Cerebral cavernous malformations 1 / 2 / 3 (CCM1 / CCM2 / CCM3) CCM2, KRIT1, PDCD10
Sanger
Del Dup
Chondrocalcinosis 2 (CCAL2) ANKH
Sanger
Del Dup
Chondrodysplasia with joint dislocations, GPAPP type IMPAD1
Sanger
Del Dup
Chondrodysplasia, Grebe type (AMDG) GDF5
Sanger
Del Dup
Congenital contractural arachnodactyly (CCA) FBN2
Sanger
Del Dup
NGS
Craniodiaphyseal dysplasia, autosomal dominant (CDD) SOST
Sanger
Del Dup
Cranioectodermal dysplasia 1 (CED1) IFT122
Del Dup
NGS
Cranioectodermal dysplasia 2 (CED2) WDR35
Sanger
Del Dup
NGS
Cranioectodermal dysplasia 3 (CED3) IFT43
Del Dup
NGS
Cranioectodermal dysplasia 4 (CED4) WDR19
Sanger
Del Dup
NGS
Craniofrontonasal syndrome (CFNS) EFNB1
Sanger
Del Dup
Craniometaphyseal dysplasia, autosomal dominant (CMDD) ANKH
Sanger
Del Dup
Cutis laxa, autosomal dominant 1 / 2 (ADCL1 / ADCL2) ELN, FBLN5
Sanger
Del Dup
Cutis laxa, autosomal recessive (ARCL) IA / IB / IC / IIA / IIB / IIIA / IIIB ALDH18A1, ATP6V0A2, EFEMP2, FBLN5, LTBP4, PYCR1
Sanger
Del Dup
Cutis laxa, autosomal recessive IC (ARCL1C) LTBP4
Sanger
Del Dup
Desbuquois dysplasia 1 (DBQD1) CANT1
Sanger
Del Dup
Desbuquois dysplasia 1 / 2 (DBQD1 / DBQD2) CANT1, XYLT1
Sanger
Del Dup
Desbuquois dysplasia 2 (DBQD2) XYLT1
Sanger
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Recessive ADAMTS2, ATP7A, CHST14, FKBP14, PLOD1, SLC39A13
Del Dup
NGS
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss FKBP14
Del Dup
NGS
Ehlers-Danlos syndrome, musculocontractural type CHST14
Sanger
Del Dup
NGS
Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) B4GALT7
Sanger
Del Dup
Ehlers-Danlos syndrome, spondylocheiro dysplastic form (SCD-EDS) SLC39A13
Sanger
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) COL5A1, COL5A2
Sanger
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) - (COL5A1) COL5A1
Sanger
Del Dup
NGS
Ehlers-Danlos syndrome, type I / II (EDS I / EDS II) - (COL5A2) COL5A2
Sanger
Del Dup
NGS
Ehlers-Danlos syndrome, type IV (EDS IV) COL3A1
Sanger
Del Dup
NGS
Ehlers-Danlos syndrome, type VI (EDS VI) PLOD1
Sanger
NGS
Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB) COL1A1, COL1A2
Sanger
Del Dup
NGS
Ellis-van Creveld syndrome (EVC) EVC, EVC2
Sanger
Del Dup
NGS
Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) COL7A1
Sanger
Del Dup
Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) COL7A1
Sanger
Del Dup
Epidermolysis bullosa NGS panel COL17A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
Del Dup
NGS
Exostoses, multiple, type I & II (EXT1 / EXT2) EXT1, EXT2
Sanger
Del Dup
Exostoses, multiple, type I (EXT1) EXT1
Sanger
Del Dup
Exostoses, multiple, type II (EXT2) EXT2
Sanger
Del Dup
Exudative vitreoretinopathy 1 / 2 / 4 / 5 (EVR1 / EVR2 / EVR4/ EVR5) FZD4, LRP5, NDP, TSPAN12
Sanger
Del Dup
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel FGFR1, FGFR2, FGFR3
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel FGFR1, FGFR2, FGFR3, TWIST1
Sanger
Fibrillinopathy NGS panel CBS, FBN1, FBN2
Del Dup
NGS
Fibrochondrogenesis 1 / 2 (FBCG1 / FBCG2) COL11A1, COL11A2
Sanger
Del Dup
Fibrodysplasia ossificans progressiva (FOP) ACVR1
Sanger
Del Dup
Fibular hypoplasia and complex brachydactyly GDF5
Sanger
Del Dup
Frontonasal dysplasia 1 (FND1) ALX3
Sanger
Del Dup
Frontonasal dysplasia 1 / 2 / 3 (FND1 / FND2 / FND3) and Craniofrontonasal syndrome (CFNS) ALX1, ALX3, ALX4, EFNB1
Sanger
Del Dup
Frontonasal dysplasia 2 (FND2) ALX4
Sanger
Del Dup
Frontonasal dysplasia 3 (FND3) ALX1
Sanger
Del Dup
Genitopatellar syndrome (GTPTS) KAT6B
Sanger
Del Dup
Glomuvenous malformations (GVM) GLMN
Sanger
Del Dup
Glomuvenous malformations (GVM) and Cutaneomucosal venous malformations (VMCM) GLMN, TEK
Sanger
Del Dup
Gracile bone dysplasia (GCLEB) FAM111A
Sanger
Del Dup
Greig cephalopolysyndactyly syndrome (GCPS) GLI3
Sanger
Del Dup
Hajdu-Cheney syndrome NOTCH2
Sanger
Del Dup
Hereditary hemorrhagic telangiectasia type 1 (HHT1) ENG
Sanger
Del Dup
Hereditary Hemorrhagic telangiectasia type 1 (HHT1) / 2 (HHT2) / 5 (HHT5) / SMAD4 related ACVRL1, ENG, GDF2, SMAD4
Sanger
Del Dup
Hereditary hemorrhagic telangiectasia type 1 / 2 (HHT1 / HHT2) ACVRL1, ENG
Sanger
Del Dup
Hereditary hemorrhagic telangiectasia type 2 (HHT2) ACVRL1
Sanger
Del Dup
Hereditary hemorrhagic telangiectasia type 5 (HHT5) GDF2
Sanger
Del Dup
Homocystinuria CBS
Sanger
Del Dup
NGS
Hyperostosis corticalis generalisata (Van Buchem disease) SOST
Sanger
Del Dup
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus LRP5
Sanger
Del Dup
NGS
Hypophosphatasia, infantile, childhood & adult types ALPL
Sanger
Del Dup
NGS
Ichthyosis NGS panel - Nonsyndromic ABCA12, ALOX12B, ALOXE3, CYP4F22, FLG, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, STS, TGM1
Del Dup
NGS
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) SMAD4
Sanger
Del Dup
KBG syndrome (KBGS) ANKRD11
Sanger
Del Dup
Kenny-Caffey syndrome, type 1 (KCS1) TBCE
Sanger
Del Dup
Kenny-Caffey syndrome, type 1 / 2 (KCS1 / KCS2) FAM111A, TBCE
Sanger
Del Dup
Kenny-Caffey syndrome, type 2 (KCS2) FAM111A
Sanger
Del Dup
Klippel-Feil Syndrome 1 (KFS1) GDF6
Sanger
Del Dup
Klippel-Feil syndrome 1 / 2 / 3 (KFS1 / KFS2 / KFS3) GDF3, GDF6, MEOX1
Sanger
Del Dup
Klippel-Feil syndrome 2 (KFS2) MEOX1
Sanger
Del Dup
Klippel-Feil syndrome 3 (KFS3) GDF3
Sanger
Del Dup
Knobloch syndrome 1 (KNO1) COL18A1
Sanger
Del Dup
Known familial mutation - One mutation
Sanger
Known familial mutations - Two mutations
Sanger
Loeys-Dietz syndrome 1 (LDS1) TGFBR1
Sanger
Del Dup
NGS
Loeys-Dietz syndrome 1 / 2 (LDS1 / LDS2) TGFBR1, TGFBR2
Sanger
Del Dup
Loeys-Dietz syndrome 1 / 2 / 3 / 4 (LDS1 / LDS2 / LDS3 / LDS4) SMAD3, TGFB2, TGFBR1, TGFBR2
Sanger
Del Dup
Loeys-Dietz syndrome 2 (LDS2) TGFBR2
Sanger
Del Dup
NGS
Loeys-Dietz syndrome 3 (LDS3) SMAD3
Sanger
Del Dup
NGS
Loeys-Dietz syndrome 4 (LDS4) TGFB2
Sanger
Del Dup
NGS
Marfan syndrome (MFS), Loeys-Dietz syndrome 1 (LDS1) and Loeys-Dietz syndrome 2 (LDS2) FBN1, TGFBR1, TGFBR2
Sanger
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Flexible ACTA2, COL3A1, FBN1, MYH11, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
NGS
Marfan syndrome, type I (MFS1) FBN1
Sanger
Del Dup
NGS
Marfan syndrome, type I / II (MFS1 / MFS2) FBN1, TGFBR2
Sanger
Del Dup
Marfan syndrome, type II (MFS2) TGFBR2
Sanger
Del Dup
NGS
Marshall syndrome COL11A1
Sanger
Del Dup
NGS
Marshall-Smith syndrome (MRSHSS) NFIX
Sanger
Del Dup
Meier-Gorlin syndrome 1 (MGORS1) ORC1
Sanger
Del Dup
Meier-Gorlin syndrome 1 / 2 / 3 / 4 / 5 (MGORS1 / MGORS2 / MGORS3 / MGORS4 / MGORS5) CDC6, CDT1, ORC1, ORC4, ORC6
Sanger
Del Dup
Meier-Gorlin syndrome 2 (MGORS2) ORC4
Sanger
Del Dup
Meier-Gorlin syndrome 3 (MGORS3) ORC6
Sanger
Del Dup
Meier-Gorlin syndrome 4 (MGORS4) CDT1
Sanger
Del Dup
Meier-Gorlin syndrome 5 (MGORS5) CDC6
Sanger
Del Dup
Menkes disease (MK) ATP7A
Sanger
Del Dup
NGS
Metaphyseal anadysplasia 1 (MANDP1) and Metaphyseal anadysplasia 2 (MANDP2) MMP13, MMP9
Sanger
Del Dup
Metaphyseal dysplasia without hypotrichosis (CHHV)
Deletion / Duplication testing added!
RMRP
Sanger
Del Dup
Metaphyseal dysplasia, Spahr type MMP13
Sanger
Del Dup
Multiple epiphyseal dysplasia (MED) panel COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Sanger
Noonan spectrum disorder NGS panel BRAF, CBL, HRAS, KRAS, MAP2K1, MAPK2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1
Del Dup
NGS
Ohdo syndrome, SBBYS variant (SBBYSS) KAT6B
Sanger
Del Dup
Osteogenesis imperfecta NGS panel - Dominant ALPL, COL1A1, COL1A2, IFITM5
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive ALPL, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive ALPL, BMP1, CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1
Del Dup
NGS
Osteogenesis imperfecta, CREB3L1 related CREB3L1
Sanger
Del Dup
Osteogenesis imperfecta, PLS3 related (BMND18) PLS3
Sanger
Del Dup
Osteogenesis imperfecta, types I, II, III & IV COL1A1, COL1A2
Sanger
Del Dup
NGS
Osteopathia striata with cranial sclerosis (OSCS) AMER1
Sanger
Del Dup
Osteopetrosis NGS panel CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Del Dup
NGS
Osteopetrosis, autosomal recessive 1, 4, 5 (OPTB1 / 4 / 5) CLCN7, OSTM1, TCIRG1
Sanger
Del Dup
Osteoporosis-pseudoglioma syndrome (OPPG) LRP5
Sanger
Del Dup
NGS
Parkes Weber syndrome (PKWS) RASA1
Sanger
Del Dup
Periventricular heterotopia, Ehlers-Danlos variant (PVNH4) FLNA
Sanger
NGS
Pfeiffer syndrome FGFR1, FGFR2
Sanger
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) FLVCR2
Sanger
Del Dup
Pulmonary hypertension, primary, 1 (PPH1) BMPR2
Sanger
Del Dup
Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) BMPR2
Sanger
Del Dup
Pycnodysostosis (PKND) CTSK
Sanger
Del Dup
Rickets, hypophosphatemic, autosomal dominant (ADHR) FGF23
Sanger
Rickets, hypophosphatemic, autosomal recessive, 1 (ARHR1) DMP1
Sanger
Del Dup
Rickets, hypophosphatemic, autosomal recessive, 2 (ARHR2) ENPP1
Sanger
Del Dup
Rickets, hypophosphatemic, X-linked dominant (XLH) PHEX
Sanger
Del Dup
Rickets, vitamin D-dependent, type I (VDDR I) CYP27B1
Sanger
Del Dup
Roberts syndrome (RBS) ESCO2
Sanger
Del Dup
Robinow syndrome, autosomal dominant (DRS) WNT5A
Sanger
Del Dup
Robinow syndrome, autosomal dominant (DRS) and autosomal recessive (RRS) ROR2, WNT5A
Sanger
Del Dup
Robinow syndrome, autosomal recessive (RRS) ROR2
Sanger
Del Dup
Saethre-Chotzen syndrome (SCS) FGFR3, TWIST1
Sanger
Del Dup
SC phocomelia syndrome ESCO2
Sanger
Del Dup
Schwartz-Jampel syndrome, type 1 (SJS1) HSPG2
Sanger
Del Dup
NGS
Sclerosteosis SOST
Sanger
Del Dup
Shprintzen-Goldberg craniosynostosis syndrome (SGS) SKI
Sanger
Del Dup
NGS
Simpson-Golabi-Behmel syndrome (SGBS1) GPC3
Sanger
Del Dup
Simpson-Golabi-Behmel syndrome (SGBS1), Sotos syndrome 1 / 2 (SOTOS1 / SOTOS2), Weaver syndrome (WVS) EZH2, GPC3, NFIX, NSD1
Sanger
Del Dup
Skeletal dysplasia ciliopathy NGS panel DYNC2H1, EVC, EVC2, IFT122, IFT43, IFT80, NEK1, TTC21B, WDR19, WDR35
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel ARSE, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, LBR, LIFR, NSDHL, PEX7, PTH1R, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
Del Dup
NGS
Skeletal dysplasia core NGS panel COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, SOX9, TRIP11
Del Dup
NGS
Skeletal dysplasia extended NGS panel ARSE, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, NSDHL, PEX7, PTH1R, SLC35D1, TRPV4
Del Dup
NGS
Sotos syndrome 1 (SOTOS1) NSD1
Sanger
Del Dup
Sotos syndrome 2 (SOTOS2) NFIX
Sanger
Del Dup
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) NKX3-2
Sanger
Del Dup
Spondylocostal dysostosis 1 / 2 / 3 / 4, autosomal recessive (SCDO1 / SCDO2 / SCDO3 / SCDO4) & spondylocostal dysostosis 5, autosomal dominant (SCDO5) DLL3, HES7, LFNG, MESP2, TBX6
Sanger
Del Dup
Spondylocostal dysostosis 5, autosomal dominant (SCDO5) TBX6
Sanger
Del Dup
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) PCYT1A
Sanger
Del Dup
Stickler syndrome NGS panel COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
Del Dup
NGS
Stickler syndrome, autosomal recessive (COL9A1, COL9A2 & COL9A3) COL9A1, COL9A2, COL9A3
Sanger
Del Dup
Stickler syndrome, type I (STL1) COL2A1
Sanger
Del Dup
NGS
Stickler syndrome, type I / II (STL1 / STL2) COL11A1, COL2A1
Sanger
Del Dup
Stickler syndrome, type II (STL2) COL11A1
Sanger
Del Dup
NGS
Stickler syndrome, type III (STL3) COL11A2
Sanger
Del Dup
NGS
Stiff skin syndrome (SSKS) FBN1
Sanger
NGS
Supravalvular aortic stenosis (SVAS) ELN
Sanger
Del Dup
Thrombocytopenia and absent radius syndrome (TAR) RBM8A
Sanger
Del Dup
Tooth agenesis, selective, 1 (STHAG1) MSX1
Sanger
Del Dup
Torg-Winchester syndrome MMP2
Sanger
Del Dup
Treacher Collins syndrome 1 (TCS1) TCOF1
Sanger
Del Dup
Treacher Collins syndrome 2 (TCS2) POLR1D
Sanger
Del Dup
Treacher Collins syndrome 3 (TCS3) POLR1C
Sanger
Del Dup
Trichodentoosseus syndrome (TDO) DLX3
Sanger
Del Dup
Trichorhinophalangeal syndrome, type I / III (TRPS I / III) TRPS1
Sanger
Del Dup
Ullrich congenital muscular dystrophy COL6A1, COL6A2, COL6A3
Sanger
Del Dup
Van Buchem disease, type 2 (VBCH2) LRP5
Sanger
Del Dup
NGS
Wagner syndrome (WGN1) VCAN
Sanger
Del Dup
Weaver syndrome (WVS) EZH2
Sanger
Del Dup
Weill-Marchesani syndrome 1 (WMS1) ADAMTS10
Sanger
Del Dup
Weill-Marchesani syndrome 1 / 2 / 3 (WMS1 / WMS2 / WMS3) & Weill- Marchesani-like syndrome (WMSL) ADAMTS10, ADAMTS17, FBN1, LTBP2
Sanger
Del Dup
Weill-Marchesani syndrome 2 (WMS2) FBN1
Sanger
Del Dup
NGS
Weill-Marchesani syndrome 3 (WMS3) LTBP2
Sanger
Del Dup
Weill-Marchesani-like syndrome (WMSL) ADAMTS17
Sanger
Del Dup
Weyers acrofacial dysostosis EVC, EVC2
Sanger
Del Dup
NGS
Wilson disease ATP7B
Sanger
Del Dup
Witkop syndrome MSX1
Sanger
Del Dup
Wolcott-Rallison syndrome EIF2AK3
Sanger
Del Dup

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