Skeletal & Connective Tissue
|
Product Name |
Application |
Region |
|
P018-SHOX CE |
Idiopathic growth retardation |
SHOX-Xp22 |
|
P065-Marfan-1 |
Marfan syndrome |
FBN1 15q21.1, TGFBR2 3p22 |
|
P066-Marfan-2 |
Marfan syndrome |
FBN1 15q21.1 |
|
P080-Craniofacial |
Craniofacial disorders |
FGFRs, TWIST, MSX2, ALX4, RUNX2 |
|
P092-ABCC6 |
Pseudoxanthoma elasticum |
ABCC6 16p13.11 |
|
P148-TGFBR1-TGFBR2 |
Aortic aneurysm syndrome |
TGFBR1 9q22, TGFBR2 3p22 |
|
P155-EDS |
The Ehlers-Danlos syndrome type III (EDS III) |
COL3A1 2q31, TNXB 6p21.3. |
|
P191-Alport-mix1 |
Alport syndrome, Hereditary Nephritis |
COL4A5 Xq22 |
|
P192-Alport-mix2 |
Alport syndrome, Hereditary Nephritis |
COL4A5 Xq22 |
|
P214-COL2A1 |
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal |
COL2A1 12q13.11-q13.2 |
|
P215-EXT |
Multiple Osteochondromas |
EXT1 8q24, EXT2 11p11 |
|
P223-PHEX |
Hypophosphatemia, x-linked |
PHEX Xp22.2, FGF23 12p13 |
|
P228-TRPS1-EXT1 |
Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) |
TRPS1, EXT1, 8q24 |
|
P271-COL1A1 |
Osteogenesis imperfecta (OI) |
COL1A1 17q21.3 |
|
P272-COL1A2 |
Osteogenesis imperfecta (OI) |
COL1A2 7q21.3 |
|
P285-LRP5 |
Osteoporosis-pseudoglioma syndrome (OPPS) |
LRP5 11q13.4, DKK1 10q11.2 |
|
P289-LMX1B |
Nail patella syndrome (NPS) |
LMX1B 9q33 |
|
P331-COL5A1 MIX-1 |
Ehlers-Danlos Syndrome |
COL5A1 9q34.3 |
|
P332-COL5A1 MIX-2 |
Ehlers-Danlos Syndrome |
COL5A1 9q34.3 |
|
P359-PLOD1 |
Ehlers-Danlos syndrome type VI; Kyphoscoliotic Form |
1p36.22 |
|
P381-COL11A1 mix 1 |
Marshall, type II Stickler syndromes |
COL11A1 |
|
P382-COL11A1 mix 2 |
Marshall, type II Stickler syndromes |
COL11A1 |
|
P415-COL7A1-KRT5 |
Epidermolysis Bullosa Hereditaria |
3p21.31 COL7A1, 12q13.13 KRT5 |
|
P416-KRT14-LAMA3-LAMB3-LAMC2 |
Epidermolysis Bullosa Hereditaria |
17q21.2 KRT14; 18q11.2 LAMA3; 1q32.2 LAMB3; 1q25.3 LAMC2 |
|
P435-FLNB |
Atelosteogenesis, Boomerang dysplasia, AD Larsen Syndrome |
3p14.3 FLNB |
|
P439-COL4A3 |
Alport Syndrome |
02q36.3 |
|
P444-COL4A4 |
Alport Syndrome |
2q36.3 |
|
P452-PLS3 |
Osteogenesis imperfecta |
Xq23 |
|
P456-EVC EVC2 |
Ellis-van Creveld syndrome |
4p16.2 |
