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Disease Name: Craniofacial-deafness-hand syndrome
Genes Covered:ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3
Panel: Strand Skeletal Disorders Test
Disorder Category: Limb hypoplasia-reduction defects
Turnaround Time: 5-6 weeks from receipt of sample in the lab