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HERMANSKY-PUDLAK SYNDROME , NEXT-GENERATION SEQUENCING (NGS) 9 GENES

Test Code

39241

Gene/s
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9 genes

Specific Gene

AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

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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