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PONTOCEREBELLAR HYPOPLASIA , PANEL MASSIVE SEQUENCING (NGS) 9 GENES

Test Code

41713

Gene/s
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9 gens

Specific Gene

CASK, CHMP1A, EXOSC3, OPHN1, RARS2, TSEN2, TSEN34, TSEN54, VRK1

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). Necessary clinical and family history.

TAT

30 days

Omim G

Omim F

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