MLPA Test – Gene Deletion/Duplication with MCC

MLPA (Multiplex Ligation-dependent Probe Amplification) is a molecular genetic technique designed to identify copy number variations (CNVs), specifically deletions and duplications in targeted genes or chromosomal regions. Unlike sequencing, which detects single nucleotide variants (SNVs) or small indels, MLPA is highly sensitive for detecting larger structural changes within genes that may cause disease.
For prenatal testing, Maternal Cell Contamination (MCC) analysis is performed in parallel using a maternal blood sample. This step ensures that the DNA analyzed from the amniotic fluid is purely fetal and free from maternal DNA contamination, providing reliable and accurate diagnostic results.
Typical clinical applications include confirming suspected genetic syndromes, carrier testing, or prenatal diagnosis of known familial variants.