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

P

Paget disease of bone 2 TNFRSF11A
Del Dup
NGS
Paget disease of bone 3 SQSTM1
Del Dup
NGS
Paget disease of bone 5 TNFRSF11B
NGS
Del Dup
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
Del Dup
NGS
Parkes Weber syndrome RASA1
Del Dup
NGS
Periventricular nodular heterotopia 1 FLNA
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency PHGDH
NGS
Del Dup
Phosphoserine aminotransferase deficiency PSAT1
Del Dup
NGS
Platelet bleeding disorders NGS panel (32 genes) ACTN1, ANO6, AP3B1, BLOC1S3, BLOC1S6, CD36, DTNBP1, GFI1B, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LYST, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, SLFN14, TBXA2R, TBXAS1, VWF, WAS, WIPF1
NGS
Del Dup
Platyspondylic lethal skeletal dysplasia, Torrance type COL2A1
NGS
Del Dup

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