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

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Paget disease of bone 2 TNFRSF11A
Del Dup
NGS
Paget disease of bone 3 SQSTM1
Del Dup
NGS
Paget disease of bone 5 TNFRSF11B
Del Dup
NGS
Paget disease of bone 6 ZNF687
Del Dup
NGS
Paget disease of bone and related disorders NGS panel (7 genes) HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP, ZNF687
Del Dup
NGS
Pallister-Hall syndrome GLI3
Del Dup
NGS
Parastremmatic dwarfism TRPV4
NGS
Del Dup
Parkes Weber syndrome RASA1
Del Dup
NGS
Peeling skin syndrome NGS panel (7 genes) CAST, CDSN, CHST8, CSTA, FLG2, SERPINB8, TGM5
NGS
Del Dup
Periventricular nodular heterotopia 1 FLNA
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency PHGDH
Del Dup
NGS
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Platelet bleeding disorders NGS panel (34 genes) ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GBA, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG
Del Dup
NGS

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