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PHOSPHORYLASE KINASE DEFICENCY , PANEL MASSIVE SEQUENCING (NGS) PHKA1, PHKA2, PHKB, PHKG2 GENES

Test Code

31245

Gene/s
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4 gens

Specific Gene

PHKA1, PHKA2, PHKB, PHKG2

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

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

TAT

30 days

Omim G

311870/300798/172490/172471

Omim F

300559/306000/261750/613027

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