Multiplex Ligation- dependent Probe Amplification (MLPA) is used to analized gene copy number variations (CNVs) associated with diseases. MLPA is used to detect deletions, duplications, amplifications, and anything from complete chromosomes to single exons.


Amplexa Genetics performs genetic testing for hearing loss and spinal muscular atrophy by using MLPA technique. Mutations in GJB2 (gap junction beta 2) gene and GJB6 (gap junction beta 6) lead to hearing loss. Mutation in SMN1 (survival motor neuron 1) gene leads to spinal muscular atrophy. SMN2 gene produces a small amount of the SMN protein, but most produced versions are small and broken down quickly.


These four genes are tested, mostly in sperm donors to investigate if they are carriers of the mutations.


MLPA technique is developed by MRC-Holland.

Chemistry: SALSA MLPA Reagent Kit, MRC-Holland.

Hardware: SeqStudio Genetic Analyzer.

Data processing: Data is analyzed in Genemarker Software. "Synthetic control samples" are used as control samples. The normal range is from 70-130%.