WHY MLPA

Detecting Rare Disorders
First-Line CNV Test
Sensitivity in Complex Analysis

MLPA is a powerful technique used to detect copy number variations in human
genes. It aids in diagnosing genetic diseases linked to gene deletions,
duplications, and abnormal DNA methylation.

Disease MLPA Assay
Duchenne Muscular Dystrophy (DMD) Detects deletions/duplications in the DMD gene, associated with DMD.
Spinal Muscular Atrophy (SMA) Identifies deletions in the SMN1 & SMN2 copy numbers, linked to SMA.
Microdeletion & Duplication Syndrome (20MDD) Detects microdeletions & duplications of 20 known disorders.
Angelman Syndrome (AGS) Utilizes Methylation MLPA to assess DNA methylation changes related to AGS
Prader-Willi Syndrome (PWS) Uses Methylation MLPA to investigate abnormal DNA methylation in PWS.

MLPA Workflow

mlpa workflow

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