List of diseases covered by Osteogenesis Imperfecta NGS panel

List of diseases covered by
Osteogenesis Imperfecta NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile
BMP1 Osteogenesis imperfecta, type XIII
COL1A1 Caffey disease; Ehlers-Danlos syndrome, arthrochalasia type, 1;
Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type Ii;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
CREB3L1 Osteogenesis imperfecta, type XVI
CRTAP Osteogenesis imperfecta, type VII
FKBP10 Osteogenesis imperfecta, type XI; Bruck syndrome 1
IFITM5 Osteogenesis imperfecta, type V
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal;
Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MBTPS2 Osteogenesis imperfecta, type XIX;
Olmsted syndrome, X-linked;
IFAP syndrome with or without BRESHECK syndrome;
Keratosis follicularis spinulosa decalvans, X-linked
P3H1 Osteogenesis imperfecta, type VIII
PLOD2 Bruck syndrome 2
PLS3 Bone mineral density QTL18, osteoporosis
PPIB Osteogenesis imperfecta, type IX
SERPINF1 Osteogenesis imperfecta, type VI
SERPINH1 Osteogenesis imperfecta, type X
SP7 Osteogenesis imperfecta, type XII
SPARC Osteogenesis imperfecta, type XVII
TMEM38B Osteogenesis imperfecta, type XIV
WNT1 Osteogenesis imperfecta, type XV

Osteogenesis Imperfecta NGS panel

Osteogenesis Imperfecta NGS panel

Genes: ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1 (LEPRE1), PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1

List of diseases covered by the panel


Price / TAT: 1338 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form