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2-HYDROXYGLUTARIC ACIDURIA AND OTHER NEUROMETABOLIC DISORDERS , DELETIONS-DUPLICATIONS (MLPA) MLC1, MLYCD, L2HGDH and D2HGDH GENES

Test Code

4493

Gene/s
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4 genes

Specific Gene

D2HGDH, L2HGDH, MLC1, MLYCD

Analysis Methods

MLPA (Multiplex ligation dependent probe amplification)

Sample Requirements

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

TAT

30 days

Omim G

609186/609584/605908/606761

Omim F

600721/236792/604004/248360

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