MLPA: The Gold Standard for DNA Copy Number Determination

Simple & Fast

Six simple steps with low hands-on time – for results within 24 hours.

Sensitive & Specific

Detect CNVs and selected SNVs.

Clear & High-quality

Clear results and advanced quality checks with Coffalyser.Net.

The power of MLPA in research & diagnostics

MLPA^® (Multiplex Ligation-dependent Probe Amplification) is the go-to technique for studying gene copy number variations (CNVs) associated with disease. Laboratories worldwide rely on MLPA for the diagnosis and research of genetic disorders and tumours. The power of the technique lies in its versatility: MLPA can be used to detect copy number changes in anything from complete chromosomes to single exons. MLPA is also used to detect DNA methylation changes (MS-MLPA) and is sensitive enough to discriminate aberrations in disease-causing genes from highly similar pseudogenes.

Why MLPA?

CNVs play a role in hundreds of genetic disorders, and MLPA assays exist for even the rarest of them. Laboratories around the world use MLPA to ensure that deletions and duplications are adequately recognised. For disorders where CNVs make up the majority of mutations, MLPA is used as a first-line test. The same applies to disorders in which genetic analysis is complicated by pseudogenes: here, MLPA is used for its exceptional sensitivity to discriminate closely related sequences. In oncogenomics, MLPA is used to study somatic CNVs to optimise tumour profiling.

How does MLPA work?

MLPA is a simple, multiplex PCR technique that uses a single primer pair to amplify up to 60 probes, each with a unique genomic target and length. PCR amplicons are fluorescently labelled and separated and quantified by capillary electrophoresis. By comparing the resulting peak pattern of a sample to those of a set of reference samples, the number of genomic targets present in the sample of interest can be determined.

Popular MLPA applications 

1. Predisposition to Cancer
   • BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, APC, MMR, NF1 
2. Neuromuscular Disorders
   • SMA, DMD, CMT1
3. Intellectual Disability
   • microdeletion, PWS/AS, FMR1/AFF2, MECP2, Sotos, WBS, SHOX, aneuploidy
4. Solid Tumours
   • Gliomas, MMR, Neuroblastoma, TP53, Breast
5. Methylation profiling

• Prader-Willi / Angelman syndrome, Fragile X, Beckwith-Wiedemann Syndrome

Advantages and features of MLPA

Examine up to 60 targets per reaction

Only 50 ng of DNA is required per reaction

MLPA detects a short sequence of 60-80 nucleotides

Detection of single exon deletions and duplications

Detection of targeted point mutations

One simple protocol

Results available within 24 hours

Limited lab equipment required: only a thermocycler and a sequence type electrophoresis system

User-friendly, reliable, and free data analysis software: Coffalyser.Net

Visit the website mrcholland.com to:

• Search for genes, and chromosomal regions of interest  to find all related MLPA products.
• Explore the MLPA procedure to learn how to do MLPA
• Get MLPA support by viewing education, workshop, and troubleshooting materials.
• Stay up to date with current MLPA news.