Skeletal Dysplasia
Genes Tested 77 Genes
- ALPL
- ALX4
- ANKRD11
- ARHGAP31
- ASXL1
- BMP1
- C2CD3
- CCNQ
- CDC45
- COL1A1
- COL1A2
- CPLANE1
- CRTAP
- CYP26B1
- DHODH
- DLL4
- DOCK6
- EFNB1
- EOGT
- ERF
- ESCO2
- FANCA
- FANCC
- FANCG
- FGFR1
- FGFR2
- FGFR3
- FKBP10
- FLNA
- GLI3
- GNAS
- HDAC8
- HOXD13
- IFITM5
- IFT122
- IL11RA
- KAT6A
- KMT2A
- LMBR1
- MSX2
- NIPBL
- NOG
- OFD1
- P3H1
- PITX1
- PLOD2
- POR
- PPIB
- RAB23
- RAD21
- RBM8A
- RBPJ
- RECQL4
- RUNX2
- SALL1
- SALL4
- SERPINF1
- SERPINH1
- SF3B4
- SLC26A2
- SMAD6
- SMC1A
- SMC3
- SOX9
- SP7
- STAG1
- STAG2
- TBX3
- TBX5
- TCF12
- TCTN3
- TMCO1
- TMEM38B
- TP63
- TRPS1
- TWIST1
- WNT1
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
756.01 |
Genes Tested |
77 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |