List of diseases covered by Osteogenesis Imperfecta NGS panel

Published 12/12/2018

List of diseases covered by
Osteogenesis Imperfecta NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile
ANO5 Gnathodiaphyseal dysplasia; Miyoshi muscular dystrophy 3;
Muscular dystrophy, limb-girdle, autosomal recessive 12
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3,
with renal tubular acidosis
CLCN7 Hypopigmentation, organomegaly,
and delayed myelination and development; Osteopetrosis, autosomal dominant 2;
Osteopetrosis, autosomal recessive 4
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
COL1A2 hlers-Danlos syndrome, arthrochalasia type, 2;
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
CREB3L1 Osteogenesis imperfecta, type XVI
CRTAP Osteogenesis imperfecta, type VII
CTSK Pycnodysostosis
DSPP Deafness, autosomal dominant 39, with dentinogenesis;
Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II;
Dentinogenesis imperfecta, Shields type III
FGFR3 CATSHL syndrome; Achondroplasia;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia; LADD syndrome; Muenke syndrome;
SADDAN; Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II
FKBP10 Osteogenesis imperfecta, type XI; Bruck syndrome 1
GORAB Geroderma osteodysplasticum
IFITM5 Osteogenesis imperfecta, type V
KDELR2 Osteogenesis imperfecta
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
MESD Osteogenesis imperfecta, type XX
NOTCH2 Alagille syndrome 2; Hajdu-Cheney syndrome
OSTM1 Osteopetrosis, autosomal recessive 5
P3H1 Osteogenesis imperfecta, type VIII
P4HB Cole-Carpenter syndrome 1
PLEKHM1 Osteopetrosis, autosomal recessive 6;
Osteopetrosis, autosomal dominant 3
PLOD2 Bruck syndrome 2
PLS3 Bone mineral density QTL18, osteoporosis
PPIB Osteogenesis imperfecta, type IX
SEC24D Cole-Carpenter syndrome 2
SERPINF1 Osteogenesis imperfecta, type VI
SERPINH1 Osteogenesis imperfecta, type X
SLC26A2 Achondrogenesis Ib; Atelosteogenesis, type II;
De la Chapelle dysplasia; Diastrophic dysplasia;
Epiphyseal dysplasia, multiple, 4
SNX10 Osteopetrosis, autosomal recessive 8
SOX9 Acampomelic campomelic dysplasia; Campomelic dysplasia;
Campomelic dysplasia with autosomal sex reversal
SP7 Osteogenesis imperfecta, type XII
SPARC Osteogenesis imperfecta, type XVII
TCIRG1 Osteopetrosis, autosomal recessive 1
TENT5A Osteogenesis imperfecta, type XVIII
TMEM38B Osteogenesis imperfecta, type XIV
TNFRSF11A Osteopetrosis, autosomal recessive 7
TNFSF11 Osteopetrosis, autosomal recessive 2
WNT1 Osteogenesis imperfecta, type XV

Osteogenesis Imperfecta NGS panel

Published 12/12/2018

Osteogenesis Imperfecta NGS panel

Genes
(full
coding
region):		 ALPL, ANO5, BMP1, CA2, CLCN7, COL1A1, COL1A2, CREB3L1, CRTAP, CTSK, DSPP, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, OSTM1, P3H1, P4HB, PLEKHM1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SNX10, SOX9, SP7, SPARC, TCIRG1, TENT5A, TMEM38B, TNFRSF11A, TNFSF11, WNT1

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
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