Pontocerebellar hypoplasia, panel (CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A) NGS, whole blood

Studied genes, Description and Delivery Time Modification

Test code: 4773

Effective update from 24/08/2018

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Pontocerebellar hypoplasia, panel (CASK, TSEN2,     TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3,    CHMP1A) NGS, whole blood    Studied genes (9): CASK, TSEN2, TSEN34, TSEN54,     OPHN1, RARS2, VRK1, EXOSC3, CHMP1A     Delivery term: 50 days	Pontocerebellar hypoplasia, panel (10 genes)    NGS, whole blood    Studied genes (10): CHMP1A, EXOSC3,        RARS2, SEPSECS, TBC1D23, TOE1,        TSEN2, TSEN34, TSEN54, VRK1      Delivery term: 52 days

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