Skeletal and connective tissue disorders panel
21 days
Next Generation Sequencing
Genelist (66): ACAN, ACP5, ATP7A, B3GALT6, B3GAT3, BGN, BPNT2, CANT1, CCN6, CFAP410, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GALNS, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, LONP1, MATN3, MBTPS1, MIR140, MMP13, MMP9, NANS, NEK1, NKX3-2, NMNAT1, PAM16, PAPSS2, PCYT1A, PISD, PLCB3, POP1, PRKG2, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SGMS2, SLC26A2, SLC39A13, SMARCAL1, TONSL, TRAPPC2, TRPV4, UFSP2, XYLT1
Accredited NRL Laboratory
Once a week
Diagnosis of skeletal dysplasias via genetic analysis; targeted management and genetic counseling.
Peripheral Blood
5-7 mL whole blood OR DNA ≥ 100 µL
Lavender-top (EDTA) tube
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |