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MAPLE SYRUP URINE DISEASE (MSUD) , NEXT-GENERATION SEQUENCING (NGS) BCKDHA, BCKDHB, DBT, DLD GENES

Test Code

58030

Gene/s
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4 genes

Specific Gene

BCKDHA, BCKDHB, DBT, DLD

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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