Single Gene Analysis With MCC

Single Gene Analysis + Maternal Cell Contamination (MCC) is a specialized genetic test designed to examine an entire gene of interest for pathogenic variants, typically in cases where there is clinical suspicion or a family history of a specific inherited disorder.

This analysis is particularly useful when the condition under investigation is linked to mutations in a specific gene (e.g., CFTR for cystic fibrosis, HBB for beta-thalassemia). The test can identify a range of mutation types—including single nucleotide changes, small insertions/deletions, and known pathogenic variants.

Included in the package is Maternal Cell Contamination (MCC) analysis, which plays a crucial role in prenatal testing. MCC assesses whether maternal cells have contaminated the fetal DNA sample (from amniotic fluid or chorionic villi), helping ensure the validity and accuracy of results.