Skeletal & Connective Tissue
Product NameApplicationRegion
P018-SHOXCE Idiopathic growth retardation SHOX-Xp22
P065-Marfan Syndrome-1CEimproved Marfan syndrome FBN1 15q21.1, TGFBR2 3p24.1
P066-Marfan Syndrome-2CEimproved 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
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