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NIEMANN-PICK DISEASE TYPE C , NEXT-GENERATION SEQUENCING (NGS) NPC1 AND NPC2 GENES

Test Code

55663

Gene/s
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2 genes

Specific Gene

NPC1, NPC2

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

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

TAT

30 days

Omim G

607623/601015

Omim F

257220/607625

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