Craniosynostosis
NGS panel

Genes
(full coding
region):
ALX4, CD96, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FLNA, GLI3, IHH, IL11RA, MSX2, POR, RAB23, RECQL4, SEC24D, SKI, SMAD6, SOX9, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1

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

Deletion/duplication analysis

Genes: ALX1, ALX3, ALX4, EFNB1, FGFR1, FGFR2, FGFR3, MSX2, RUNX2, TWIST1

Lab method: MLPA

TAT: 4-6 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