| Achondrogenesis, type IB (ACG1B)
|
DTDST |
600972 |
| Achondrogenesis, type II (ACG2) / Hypochondrogenesis
|
COL2A1 |
200610 |
| Achondroplasia (ACH) / Hypochondroplasia (HCH)
|
FGFR3 |
100800 / 146000 |
| Anauxetic dysplasia
|
RMRP |
607095 |
| Aortic aneurysm, familial thoracic 3 (AAT3)
|
TGFBR2 |
610380 |
| 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 6 (AAT6)
|
ACTA2 |
611788 |
| Arterial tortuosity syndrome (ATS)
|
SLC2A10 |
208050 |
| Atelosteogenesis, type I / III (AOI / AOIII)
|
FLNB |
108720 / 108721 |
| Atelosteogenesis, type II (AOII)
|
DTDST |
256050 |
| Avascular necrosis of femoral head, primary (ANFH)
|
COL2A1 |
608805 |
| Bethlem myopathy
|
COL6A1, COL6A2 & COL6A3 |
158810 |
| Boomerang dysplasia (BD)
|
FLNB |
112310 |
| Brachyolmia type 3
|
TRPV4 |
113500 |
| Bruck syndrome 2 (BRKS2)
|
PLOD2 |
609220 |
| Campomelic dysplasia
|
SOX9 |
114290 |
| Camurati-Engelmann disease
|
TGFB1 |
131300 |
| Cardiac valvular dystrophy, X-linked (CVD1)
|
FLNA |
314400 |
| Cartilage-hair hypoplasia (CHH)
|
RMRP |
250250 |
| Cleidocranial dysplasia (CCD)
|
RUNX2 |
119600 |
| Contractural congenital arachnodactyly (CCA)
|
FBN2 |
121050 |
| Diastrophic dysplasia (DTD)
|
DTDST |
222600 |
| Dyssegmental dysplasia, Silverman-Handmaker type
|
HSPG2 |
224410 |
| Ectopia lentis
|
FBN1 |
129600 |
| 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 |
| Frontometaphyseal dysplasia (FMD)
|
FLNA |
305620 |
| Homocystinuria
|
CBS |
236200 |
| Hypophosphatasia, adult type
|
ALPL |
146300 |
| Hypophosphatasia, childhood
|
ALPL |
241510 |
| Hypophosphatasia, infantile
|
ALPL |
241500 |
| Kniest dysplasia
|
COL2A1 |
156550 |
| Known Mutation
|
Any in list |
Any in list |
| Larsen syndrome, autosomal dominant (LRS1)
|
FLNB |
150250 |
| 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 1B (LDS1B)
|
TGFBR2 |
610168 |
Marfan syndrome, type I (MFS1)
NEW TaqMan quantitative real-time PCR assay for detection of deletions/duplications.
|
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 |
| Metaphyseal chondrodysplasia, Schmid type (MCDS)
|
COL10A1 |
156500 |
| Metaphyseal dysplasia without hypotrichosis (CHHV)
|
RMRP |
250460 |
| Metatropic dysplasia
|
TRPV4 |
156530 |
| Multiple epiphyseal dysplasia (MED)
|
COMP, COL9A1, COL9A2, COL9A3, MATN3 & DTDST |
132400, --, 600204, 600969, 607078, 226900 |
| Nail-patella syndrome (NPS)
|
LMX1B |
161200 |
| Omodysplasia 1 (OMOD1)
|
GPC6 |
258315 |
| Osteoarthritis with mild chondrodysplasia
|
COL2A1 |
604864 |
| Osteogenesis imperfecta, autosomal recessive - CRTAP
|
CRTAP |
610854 / 610682 |
| Osteogenesis imperfecta, autosomal recessive - CRTAP & LEPRE1
|
CRTAP & LEPRE1 |
610854, 610682, 610915 |
| Osteogenesis imperfecta, autosomal recessive - LEPRE1
|
LEPRE1 |
610915 |
| Osteopetrosis with renal tubular acidosis 3 (OPTB3)
|
CA2 |
259730 |
| 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 |
| Otopalatodigital syndrome, type I (OPD1)
|
FLNA |
311300 |
| Otopalatodigital syndrome, type II (OPD2)
|
FLNA |
304120 |
| Otospondylomegaepiphyseal dysplasia (OSMED)
|
COL11A2 |
215150 |
| Periventricular heterotopia, Ehlers-Danlos variant (PVNH4)
|
FLNA |
300537 |
| Periventricular heterotopia, X-linked dominant (PVNH1)
|
FLNA |
300049 |
| Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT)
|
COL2A1 |
151210 |
| Progressive pseudorheumatoid arthropathy of childhood (PPAC)
|
WISP3 |
208230 |
| Pseudoachondroplasia (PSACH)
|
COMP |
177170 |
| Rickets, hypophosphatemic, autosomal dominant (ADHR)
|
FGF23 |
193100 |
| Rickets, hypophosphatemic, autosomal recessive (ARHP)
|
DMP1 |
241520 |
| Rickets, hypophosphatemic, X-linked dominant (XLH)
|
PHEX |
307800 |
| Rickets, vitamin D-dependent, type I (VDDR I)
|
CYP27B1 |
264700 |
| Schwartz-Jampel syndrome, type 1
|
HSPG2 |
255800 |
| Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
|
FGFR3 |
- |
| Spondylocarpotarsal synostosis syndrome (SCT)
|
FLNB |
272460 |
| Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD)
|
COL2A1 |
184250 |
| Spondyloepiphyseal dysplasia congenita (SEDc)
|
COL2A1 |
183900 |
| Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)
|
SEDL |
313400 |
| Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
|
TRPV4 |
184252 |
| Spondyloperipheral dysplasia
|
COL2A1 |
271700 |
| 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 |
| Thanatophoric dysplasia, type I / II (TD1 / TD2)
|
FGFR3 |
187600 / 187601 |
| Tooth agenesis, selective, 1 (STHAG1)
|
MSX1 |
106600 |
| Ullrich congenital muscular dystrophy
|
COL6A1, COL6A2 & COL6A3 |
254090 |
| 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 |
| Witkop syndrome
|
MSX1 |
189500 |
| Wolcott-Rallison syndrome
|
EIF2AK3 |
226980 |
All Tests
