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 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