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Multiplex PCR and Reverse Line Blot Hybridization Assay (mPCR/RLB)
Published on: August 6, 2011
Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis
Alecia S Willis1, Ignatia van den Veyver, Christine M Eng
1Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. awillis@bcm.edu
Prenatal Diagnosis
|April 3, 2012
Summary
Multiplex ligation-dependent probe amplification (MLPA) is a cost-effective technique for quantifying nucleic acid targets. This review details MLPA
Area of Science:
- Molecular Biology
- Genetics
- Biotechnology
Background:
- Multiplex ligation-dependent probe amplification (MLPA) is a widely adopted technique for relative nucleic acid quantitation.
- Its simplicity, affordability, and extensive assay availability drive its use in research and diagnostics.
- MLPA is increasingly applied in both postnatal and prenatal genetic disorder diagnosis.
Purpose of the Study:
- To provide a comprehensive review of the Multiplex ligation-dependent probe amplification (MLPA) technique.
- To discuss the application of MLPA in prenatal diagnosis.
- To offer guidance on interpreting MLPA results in clinical diagnostics.
Main Methods:
- Detailed description of the Multiplex ligation-dependent probe amplification (MLPA) methodology.
- Review of published literature on MLPA applications in prenatal diagnosis.
- Discussion of considerations for clinical result interpretation.
Main Results:
- MLPA enables relative quantitation of 40-45 nucleic acid targets simultaneously.
- Applications in prenatal diagnosis include aneuploidies, microdeletion syndromes, and copy-number variations.
- MLPA is effective for identifying marker chromosomes and familial copy-number changes.
Conclusions:
- MLPA is a versatile and valuable tool for genetic analysis in both research and clinical settings.
- The technique is particularly useful for prenatal diagnosis of various genetic abnormalities.
- Proper interpretation of MLPA results is crucial for accurate clinical diagnosis.

