It is well established that deleterious mutations/changes in the basic human genetic material, DNA and RNA, result in various diseases, disorders and syndromes. Advances in molecular biology technology have opened a wide range of possibilities in understanding the mechanisms that underlie these changes and various ways of detecting them. Multiplex Ligation dependent Probe Amplification (MLPA®) is a method that can detect various genetic alterations whether they are caused by copy number changes of genes or chromosomes, amplifications and deletions of large number of genes, point mutations, and changes in subtelomeric regions. MLPA® can detect changes in up to 50 nucleic acids sequences in one simple reaction. MLPA® quickly identifies amplifications and deletions of a large number of genes and can be used for DNA and mRNA profiling of both blood and tumor-derived samples. Furthermore, the MLPA® method can also be used to quantify CpG-methylation patterns (MS-MLPA®). MLPA® has rapidly established its reputation as a trustworthy and efficient method. Hundreds of publications about the technique have appeared since its introduction in 2002, and MLPA® is now used in more than 900 labs worldwide. Some of the applications of MLPA® kits used in detecting various syndromes and diseases are:
- Prenatal and postnatal screening of syndromes such as Down, Edwards, Patau, DiGeorge…
- Hereditary cancer such as breast cancer, Ataxia telangiectasia, colon cancer, fanconi anemia…
- Pharmacogenetics products for DPYD deficiency and TPMT.
- Tumor analysis products for breast, ovarian, cervical tumors…