Bio Spec

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Overview

Bio Spec Overview

Ignite Creation Date: 2025-12-24 @ 5:42 PM
Last Modification Date: 2025-12-24 @ 5:42 PM
Retention: SAMPLES_WITH_DNA
Description: * Acid Alpha IgGlucosidase alpha enzyme test for Late Onset Pompe Disease and gene sequencing test from the same sample in samples with low enzyme activity
* Genetic Analysis for DMD (only in boys): Detection of dystrophin gene for duplication and deletion with MLPA (Multiplex-ligation dependent probe amplification) and re-screening for other mutations by gene sequencing in patients without MLPA deletion / duplication.
Section: * Acid Alpha IgGlucosidase alpha enzyme test for Late Onset Pompe Disease and gene sequencing test from the same sample in samples with low enzyme activity * Genetic Analysis for DMD (only in boys): Detection of dystrophin gene for duplication and deletion with MLPA (Multiplex-ligation dependent probe amplification) and re-screening for other mutations by gene sequencing in patients without MLPA deletion / duplication.