Browse CTGT's catalogue of NGS disorders and panels by disorder name.

D

Darier-White disease ATP2A2
Del Dup
NGS
Dense bone dysplasia NGS panel (14 genes) ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
NGS
Del Dup
Desbuquois dysplasia 1 CANT1
Del Dup
NGS
Desbuquois dysplasia 2 XYLT1
Del Dup
NGS
Desbuquois dysplasia and related disorders NGS panel (11 genes) B3GALT6, B3GAT3, CANT1, CHST3, CSGALNACT1, FLNB, GZF1, IMPAD1, KIF22, SLC26A2, XYLT1
NGS
Del Dup
Desbuquois dysplasia core NGS panel (4 genes) CANT1, CSGALNACT1, IMPAD1, XYLT1
NGS
Del Dup
Diamond-Blackfan anemia NGS panel (18 genes) GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
Del Dup
NGS

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