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
(full
coding
region):
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


Lab method: NGS panel

NGS panel with CNV


TAT: 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