GENES TESTED: AGPS; ALPL; ARSL; CANT1; CCN6; CILK1; COL1A1; COL1A2*; COL2A1; COL10A1; COL11A1; COL11A2; COMP; CRTAP; DDR2; DLL3; DYM*; DYNC2H1; EBP; EVC*; EVC2; FGFR1*; FGFR2; FGFR3; FKBP10; FLNA; FLNB; GDF5; GNPAT; HSPG2; IFT80; INPPL1; LBR; LIFR; NEK1*; NPR2; P3H1; PCNT; PEX7; POR*; PPIB; PTH1R; RUNX2; SERPINH1; SLC26A2; SLC35D1; SMARCAL1; SOX9; TRIP11; TRPV4; TTC21B; WDR19; WDR35
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
Use to confirm the causal variant(s) in individuals with clinical features of a skeletal dysplasia.
Please contact the laboratory at 266-1500 (Option 1) if this is prenatal testing or for payment requirements of this test
Skeletal Dysplasia Testing Patient History Form
* This volume does not allow for repeat testing
Transport
Buccal brush or swab
FFPE tissue
Frozen
Grossly hemolyzed
Plasma
Saliva
Serum
Refer to Interpretive Results
Use to confirm the causal variant(s) in individuals with clinical features of a skeletal dysplasia.
14 to 21 days
00913333
81405; 81408; 81479