| Achondrogenesis, type IA (ACG1A)
|
TRIP11 |
200600 |
   |
| Achondrogenesis, type IB (ACG1B)
|
DTDST |
600972 |
|
| Achondrogenesis, type II (ACG2) / Hypochondrogenesis
|
COL2A1 |
200610 |
|
| Achondroplasia (ACH) / Hypochondroplasia (HCH)
|
FGFR3 |
100800 & 146000 |
|
| Acromesomelic dysplasia, Maroteaux type (AMDM)
|
NPR2 |
602875 |
|
| Acromicric dysplasia (ACMICD)
|
FBN1 |
102370 |
|
| Adams-Oliver Syndrome 1 (AOS1)
|
ARHGAP31 |
100300 |
|
| Alagille syndrome 1 (ALGS1)
|
JAG1 |
118450 |
|
| Alport syndrome, X-linked (ATS)
|
COL4A5 |
301050 |
|
| Anauxetic dysplasia
|
RMRP |
607095 |
|
| Aortic aneurysm, familial thoracic 3 (AAT3)
|
TGFBR2 |
610380 |
|
| Aortic aneurysm, familial thoracic 3 / 4 / 5 / 6 (AAT3 / AAT4 / AAT5 / AAT6)
|
TGFBR2, MYH11, TGFBR1 & ACTA2 |
610380, 132900, 608967 & 611788 |
|
| Aortic aneurysm, familial thoracic 4 (AAT4)
|
MYH11 |
132900 |
|
| Aortic aneurysm, familial thoracic 5 (AAT5)
|
TGFBR1 |
608967 |
|
| Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3)
|
TGFBR1 & TGFBR2 |
608967 & 610380 |
|
| Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3), SMAD3 & TGFB2 related
|
TGFBR1, TGFBR2, SMAD3 & TGFB2 |
610380, 608967 |
|
| Aortic aneurysm, familial thoracic 6 (AAT6)
|
ACTA2 |
611788 |
|
| Aortic aneurysm, familial thoracic 7 (AAT7)
|
MYLK |
613780 |
|
| Aortic aneurysm, familial thoracic, SMAD3 related
|
SMAD3 |
- |
|
| Aortic aneurysm, familial thoracic, TGFB2 related
|
TGFB2 |
- |
|
| Apert syndrome
|
FGFR2 |
101200 |
|
| Arterial calcification, generalized, of infancy, 1 (GACI1)
|
ENPP1 |
208000 |
|
| Arterial tortuosity syndrome (ATS)
|
SLC2A10 |
208050 |
|
| Asphyxiating thoracic dystrophy 2 (ATD2)
|
IFT80 |
611263 |
|
| Asphyxiating thoracic dystrophy 3 (ATD3)
|
DYNC2H1 |
613091 |
|
| Asphyxiating thoracic dystrophy 4 (ATD4)
|
TTC21B |
613819 |
|
| Asphyxiating thoracic dystrophy 5 (ATD5)
|
WDR19 |
614376 |
|
| Atelosteogenesis, type I / III (AOI / AOIII)
|
FLNB |
108720 & 108721 |
|
| Atelosteogenesis, type II (AOII)
|
DTDST |
256050 |
|
| Avascular necrosis of femoral head, primary (ANFH)
|
COL2A1 |
608805 |
|
| Beare-Stevenson cutis gyrata syndrome
|
FGFR2 |
123790 |
|
| Bent bone dysplasia syndrome (BBDS)
|
FGFR2 |
614592 |
|
| Bethlem myopathy
|
COL6A1, COL6A2 & COL6A3 |
158810 |
|
| Boomerang dysplasia (BD)
|
FLNB |
112310 |
|
| Brachyolmia type 3
|
TRPV4 |
113500 |
|
| Brittle cornea syndrome 1 (BCS1)
|
ZNF469 |
229200 |
|
| Brittle cornea syndrome 2 (BCS2)
|
PRDM5 |
614170 |
|
| Bruck syndrome 2 (BRKS2)
|
PLOD2 |
609220 |
|
| Buschke-Ollendorff syndrome (BOS)
|
LEMD3 |
166700 |
|
| Caffey disease
|
COL1A1 |
114000 |
|
| Campomelic dysplasia (CMPD)
|
SOX9 |
114290 |
|
| Camurati-Engelmann disease (CED)
|
TGFB1 |
131300 |
|
| Capillary malformation arteriovenous malformation (CMAVM)
|
RASA1 |
608354 |
|
| Cardiac valvular dystrophy, X-linked (CVD1)
|
FLNA |
314400 |
|
| Cartilage-hair hypoplasia (CHH)
|
RMRP |
250250 |
|
| Chondrocalcinosis 2 (CCAL2)
|
ANKH |
118600 |
|
| Cleidocranial dysplasia (CCD)
|
RUNX2 |
119600 |
|
| Congenital contractural arachnodactyly (CCA)
|
FBN2 |
121050 |
|
| Cranioectodermal dysplasia 2 (CED2)
|
WDR35 |
613610 |
|
| Cranioectodermal dysplasia 4 (CED4)
|
WDR19 |
614378 |
|
| Craniometaphyseal dysplasia, autosomal dominant (CMDD)
|
ANKH |
123000 |
|
| Craniosynostosis, type 1 (CRS1)
|
TWIST1 |
123100 |
|
| Crouzon syndrome
|
FGFR2 |
123500 |
|
| Crouzon syndrome with acanthosis nigricans (CAN)
|
FGFR3 |
612247 |
|
| Cutis laxa, autosomal dominant
|
FBLN5 |
123700 |
|
| Cutis laxa, autosomal recessive, type I (EFEMP2)
|
EFEMP2 |
219100 |
|
| Cutis laxa, autosomal recessive, type I (FBLN5)
|
FBLN5 |
219100 |
|
| Desbuquois dysplasia (DBQD)
|
CANT1 |
251450 |
|
| Diaphanospondylodysostosis
|
BMPER |
608022 |
|
| Diastrophic dysplasia (DTD)
|
DTDST |
222600 |
|
| Digital arthropathy-brachydactyly, familial (FDAB)
|
TRPV4 |
606835 |
|
| Dyggve-Melchior-Clausen disease (DMC)
|
DYM |
223800 |
|
| Dyssegmental dysplasia, Silverman-Handmaker type (DDSH)
|
HSPG2 |
224410 |
|
| Ectopia lentis, isolated, autosomal dominant
|
FBN1 |
129600 |
|
| Ectopia lentis, isolated, autosomal recessive
|
ADAMTSL4 |
225100 |
|
| Ehlers-Danlos syndrome, musculocontractural type
|
CHST14 |
601776 |
|
| Ehlers-Danlos syndrome, spondylocheiro dysplastic form (SCD-EDS)
|
SLC39A13 |
612350 |
|
| Ehlers-Danlos syndrome, type I / II (EDS I / EDS II)
|
COL5A1, COL5A2 |
130000 & 130010 |
|
| Ehlers-Danlos syndrome, type IV (EDS IV)
|
COL3A1 |
130050 |
|
| Ehlers-Danlos syndrome, type VI (EDS VI)
|
PLOD1 |
225400 |
|
| Ehlers-Danlos syndrome, type VIIA / VIIB (EDS VIIA / VIIB)
|
COL1A1 & COL1A2 |
130060 |
|
| Ellis-van Creveld syndrome (EVC)
|
EVC & EVC2 |
225500 |
|
| Exostoses, multiple, type I & II (EXT1 / EXT2)
|
EXT1 & EXT2 |
133700 & 133701 |
|
| Exostoses, multiple, type I (EXT1)
|
EXT1 |
133700 |
|
| Exostoses, multiple, type II (EXT2)
|
EXT2 |
133701 |
|
| Exudative vitreoretinopathy 4 (EVR4)
|
LRP5 |
601813 |
|
| FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
|
FGFR1, FGFR2 & FGFR3 |
- |
|
| FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
|
FGFR1, FGFR2, FGFR3 & TWIST1 |
- |
|
| FGFR2 related craniosynostosis
|
FGFR2 |
- |
|
| Fibrochondrogenesis 1 (FBCG1)
|
COL11A1 |
228520 |
|
| Fibrochondrogenesis 2 (FBCG2)
|
COL11A2 |
614524 |
|
| Focal dermal hypoplasia (FDH)
|
PORCN |
305600 |
|
| Frontometaphyseal dysplasia (FMD)
|
FLNA |
305620 |
|
| Geleophysic dysplasia 1 (GPHYSD1)
|
ADAMTSL2 |
231050 |
|
| Geleophysic dysplasia 2 (GPHYSD2)
|
FBN1 |
614185 |
|
| Glomuvenous malformations (GVM)
|
GLMN |
138000 |
|
| Greig cephalopolysyndactyly syndrome (GCPS)
|
GLI3 |
175700 |
|
| Hereditary motor and sensory neuropathy, type IIC, (HMSN2C)
|
TRPV4 |
606071 |
|
| Homocystinuria
|
CBS |
236200 |
|
| Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
LRP5 |
144750 |
|
| Hypophosphatasia, infantile, childhood & adult types
|
ALPL |
241500 |
|
| Jackson-Weiss syndrome (JWS)
|
FGFR2 |
123150 |
|
| Kniest dysplasia
|
COL2A1 |
156550 |
|
| Known Mutation
|
Any in list |
Any in list |
|
| Larsen syndrome, autosomal dominant (LRS1)
|
FLNB |
150250 |
|
| Larsen syndrome, autosomal recessive
|
CHST3 |
245600 |
|
| Loeys-Dietz syndrome (LDS), type 1A / type 1B (LDS1A / LDS1B)
|
TGFBR1 & TGFBR2 |
609192 & 610168 |
|
| Loeys-Dietz syndrome, type 1A (LDS1A)
|
TGFBR1 |
609192 |
|
| Loeys-Dietz syndrome, type 1A, 1B, 3 & 4 (LDS1A / LDS1B / LDS3 / LDS4)
|
TGFBR1, TGFBR2, SMAD3 & TGFB2 |
609192, 610168, 613795, 614816 |
|
| Loeys-Dietz syndrome, type 1B (LDS1B)
|
TGFBR2 |
610168 |
|
| Loeys-Dietz syndrome, type 3 (LDS3)
|
SMAD3 |
613795 |
|
| Loeys-Dietz syndrome, type 4 (LDS4)
|
TGFB2 |
614816 |
|
| Marfan syndrome (MFS), Loeys-Dietz syndrome, type 1A (LDS1A) and Loeys-Dietz syndrome, type 1B (LDS1B)
|
FBN1, TGFBR1 & TGFBR2 |
154700, 609192 & 610168 |
|
| Marfan syndrome, type I (MFS1)
|
FBN1 |
154700 |
|
| Marfan syndrome, type I / II (MFS1 / MFS2)
|
FBN1 & TGFBR2 |
154700 & 610168 |
|
| Marfan syndrome, type II (MFS2)
|
TGFBR2 |
610168 |
|
| Marshall syndrome
|
COL11A1 |
154780 |
|
| Melnick-Needles syndrome (MNS)
|
FLNA |
309350 |
|
| Menkes disease (MK)
|
ATP7A |
309400 |
|
| Metaphyseal anadysplasia 1 (MANDP1)
|
MMP13 |
602111 |
|
| Metaphyseal anadysplasia 1 (MANDP1) and Metaphyseal anadysplasia 2 (MANDP2)
|
MMP9 & MMP13 |
602111 & 613073 |
|
| Metaphyseal anadysplasia 2 (MANDP2)
|
MMP9 |
613073 |
|
| Metaphyseal chondrodysplasia, Schmid type (MCDS)
|
COL10A1 |
156500 |
|
| Metaphyseal dysplasia without hypotrichosis (CHHV)
|
RMRP |
250460 |
|
| Metatropic dysplasia
|
TRPV4 |
156530 |
|
| Muenke syndrome (MNKES)
|
FGFR3 |
602849 |
|
| Multiple epiphyseal dysplasia (MED)
|
COMP |
132400 |
|
| Multiple epiphyseal dysplasia (MED) panel
|
COMP, COL9A1, COL9A2, COL9A3, MATN3 & DTDST |
132400, 614135, 600204, 600969, 607078 & 226900 |
|
| Nail-patella syndrome (NPS)
|
LMX1B |
161200 |
|
| Occipital horn syndrome (OHS)
|
ATP7A |
304150 |
|
| Omodysplasia 1 (OMOD1)
|
GPC6 |
258315 |
|
| Osteoarthritis with mild chondrodysplasia
|
COL2A1 |
604864 |
|
| Osteogenesis imperfecta, type IX
|
PPIB |
259440 |
|
| Osteogenesis imperfecta, type V
|
IFITM5 |
610967 |
|
| Osteogenesis imperfecta, type VI
|
SERPINF1 |
613982 |
|
| Osteogenesis imperfecta, type VII
|
CRTAP |
610682 |
|
| Osteogenesis imperfecta, type VIII
|
LEPRE1 |
610915 |
|
| Osteogenesis imperfecta, type X
|
SERPINH1 |
613848 |
|
| Osteogenesis imperfecta, type XI
|
FKPB10 |
610968 |
|
| Osteogenesis imperfecta, type XII
|
SP7 |
613849 |
|
| Osteogenesis imperfecta, type XIII
|
BMP1 |
614856 |
|
| Osteogenesis imperfecta, types I, II, III & IV
|
COL1A1 & COL1A2 |
613982 |
|
| Osteogenesis imperfecta, types VI, VII, VIII, IX, X, XI, XII & XIII
|
SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SP7 & BMP1 |
613982, 610682, 610915, 259440, 613848, 610968, 613849 & 614856 |
|
| Osteopetrosis with renal tubular acidosis 3 (OPTB3)
|
CA2 |
259730 |
|
| Osteopetrosis, autosomal dominant 1 (OPTA1)
|
LRP5 |
607634 |
|
| Osteopetrosis, autosomal dominant 2 (OPTA2)
|
CLCN7 |
166600 |
|
| Osteopetrosis, autosomal recessive 1 (OPTB1)
|
TCIRG1 |
259700 |
|
| Osteopetrosis, autosomal recessive 1, 4, 5 (OPTB1 / 4 / 5)
|
TCIRG1, CLCN7, OSTM1 |
259700, 611490 & 259720 |
|
| Osteopetrosis, autosomal recessive 2 (OPTB2)
|
TNFSF11 |
259710 |
|
| Osteopetrosis, autosomal recessive 4 (OPTB4)
|
CLCN7 |
611490 |
|
| Osteopetrosis, autosomal recessive 5 (OPTB5)
|
OSTM1 |
259720 |
|
| Osteopetrosis, autosomal recessive 6 (OPTB6)
|
PLEKHM1 |
611497 |
|
| Osteopetrosis, autosomal recessive 7 (OPTB7)
|
TNFRSF11A |
612301 |
|
| Osteoporosis-pseudoglioma syndrome (OPPG)
|
LRP5 |
259770 |
|
| Otopalatodigital syndrome, type I (OPD1 & OPD2)
|
FLNA |
311300, 304120 |
|
| Otospondylomegaepiphyseal dysplasia (OSMED)
|
COL11A2 |
215150 |
|
| Pallister-Hall syndrome (PHS)
|
GLI3 |
146510 |
|
| Parastremmatic dwarfism
|
TRPV4 |
168400 |
|
| Parkes Weber syndrome (PKWS)
|
RASA1 |
608355 |
|
| Periventricular heterotopia, Ehlers-Danlos variant (PVNH4)
|
FLNA |
300537 |
|
| Periventricular heterotopia, X-linked dominant (PVNH1)
|
FLNA |
300049 |
|
| Pfeiffer syndrome
|
FGFR1 & FGFR2 |
101600 |
|
| Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT)
|
COL2A1 |
151210 |
|
| Polydactyly, postaxial, type A1 (PAPA1)
|
GLI3 |
174200 |
|
| Polydactyly, preaxial IV
|
GLI3 |
174700 |
|
| Progressive pseudorheumatoid arthropathy of childhood (PPAC)
|
WISP3 |
208230 |
|
| Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)
|
FLVCR2 |
225790 |
|
| Pseudoachondroplasia (PSACH)
|
COMP |
177170 |
|
| Rickets, hypophosphatemic, autosomal dominant (ADHR)
|
FGF23 |
193100 |
|
| Rickets, hypophosphatemic, autosomal recessive, 1 (ARHR1)
|
DMP1 |
241520 |
|
| Rickets, hypophosphatemic, autosomal recessive, 2 (ARHR2)
|
ENPP1 |
613312 |
|
| Rickets, hypophosphatemic, X-linked dominant (XLH)
|
PHEX |
307800 |
|
| Rickets, vitamin D-dependent, type I (VDDR I)
|
CYP27B1 |
264700 |
|
| Saethre-Chotzen syndrome (SCS)
|
TWIST1 & FGFR3 |
101400 |
|
| Scapuloperoneal spinal muscular atrophy (SPSMA)
|
TRPV4 |
181405 |
|
| Schwartz-Jampel syndrome, type 1 (SJS1)
|
HSPG2 |
255800 |
|
| Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
|
FGFR3 |
- |
|
| Short rib-polydactyly syndrome, type II (SRPS2)
|
NEK1 |
263520 |
|
| Short rib-polydactyly syndrome, type III (SRPS3)
|
DYNC2H1 |
263510 |
|
| Short rib-polydactyly syndrome, type V (SRPS5)
|
WDR35 |
614091 |
|
| Shprintzen-Goldberg craniosynostosis syndrome (SGS)
|
SKI |
182212 |
|
| Smith-McCort dysplasia (SMC)
|
DYM |
607326 |
|
| Spinal muscular atrophy, distal, congenital nonprogressive
|
TRPV4 |
600175 |
|
| Spinal muscular atrophy, distal, X-linked 3 (SMAX3)
|
ATP7A |
300489 |
|
| Spondylocarpotarsal synostosis syndrome (SCT)
|
FLNB |
272460 |
|
| Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type)
|
MMP13 |
602111 |
|
| Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD)
|
COL2A1 |
184250 |
|
| Spondyloepiphyseal dysplasia congenita (SEDc)
|
COL2A1 |
183900 |
|
| Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)
|
SEDL |
313400 |
|
| Spondyloepiphyseal dysplasia with congenital joint dislocations
|
CHST3 |
143095 |
|
| Spondyloepiphyseal dysplasia, Maroteaux type
|
TRPV4 |
184095 |
|
| Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
|
TRPV4 |
184252 |
|
| Spondyloperipheral dysplasia
|
COL2A1 |
271700 |
|
| Stickler syndrome, autosomal recessive (COL9A1, COL9A2 & COL9A3)
|
COL9A1, COL9A2 & COL9A3 |
614134 & 614284 |
|
| Stickler syndrome, type I (STL1)
|
COL2A1 |
108300 |
|
| Stickler syndrome, type I / II (STL1 / STL2)
|
COL2A1 & COL11A1 |
108300 & 604841 |
|
| Stickler syndrome, type II (STL2)
|
COL11A1 |
604841 |
|
| Stickler syndrome, type III (STL3)
|
COL11A2 |
184840 |
|
| Stuve-Wiedemann syndrome (STWS)
|
LIFR |
601559 |
|
| Thanatophoric dysplasia, type I / II (TD1 / TD2)
|
FGFR3 |
187600 & 187601 |
|
| Three M syndrome 1 (3M1)
|
CUL7 |
273750 |
|
| Three M syndrome 2 (3M2)
|
OBSL1 |
612921 |
|
| Three M syndrome 3 (3M3)
|
CCDC8 |
614205 |
|
| Thrombocytopenia and absent radius syndrome (TAR)
|
RBM8A |
274000 |
|
| Tooth agenesis, selective, 1 (STHAG1)
|
MSX1 |
106600 |
|
| Torg-Winchester syndrome
|
MMP2 |
259600 |
|
| Treacher Collins syndrome 1 (TCS1)
|
TCOF1 |
154500 |
|
| Treacher Collins syndrome 2 (TCS2)
|
POLR1D |
613717 |
|
| Treacher Collins syndrome 3 (TCS3)
|
POLR1C |
248390 |
|
| Trichorhinophalangeal syndrome, type I (TRPS I)
|
TRPS1 |
190350 |
|
| Trichorhinophalangeal syndrome, type III (TRPS III)
|
TRPS1 |
190351 |
|
| Ullrich congenital muscular dystrophy
|
COL6A1, COL6A2 & COL6A3 |
254090 |
|
| Van Buchem disease, type 2 (VBCH2)
|
LRP5 |
607636 |
|
| Wagner syndrome (WGN1)
|
CSPG2 |
143200 |
|
| Weill-Marchesani syndrome (WMS), autosomal dominant
|
FBN1 |
608328 |
|
| Weill-Marchesani syndrome (WMS), autosomal recessive
|
ADAMTS10 |
277600 |
|
| Weissenbacher-Zweymuller syndrome (WZS)
|
COL11A2 |
277610 |
|
| Weyers acrofacial dysostosis
|
EVC & EVC2 |
193530 |
|
| Wilson disease
|
ATP7B |
277900 |
|
| Witkop syndrome
|
MSX1 |
189500 |
|
| Wolcott-Rallison syndrome
|
EIF2AK3 |
226980 |
|
Sanger Seq. & Del Dup