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HYPERPHENYLALANINEMIA DUE TO BH4-DEFICIENCY (TETRAHYDROBIOPTERIN) TYPE A , SEQUENCING PTS GENE

Test Code

40641

Gene/s
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PTS

Analysis Methods

Sanger Sequencing

Sample Requirements

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

TAT

30 days

Omim G

612719

Omim F

261640

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