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PENA-SHOKEIR SYNDROME , PANEL SEQUENCING DOK7, RAPSN, MUSK GENES

Test Code

59182

Gene/s
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3 genes

Specific Gene

DOK7, MUSK, RAPSN

Analysis Methods

Sanger Sequencing

Sample Requirements

5 mL whole blood (EDTA). It´s necessary to send us the clinical and family history.

TAT

30 days

Omim G

601592/610285/601296

Omim F

208150

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