Enigma Genomics
Targeted Variant Testing With MCC
Targeted Variant Testing With MCC
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One Targeted Variant Testing + Maternal Cell Contamination (MCC) is a focused genetic testing package designed to detect the presence or absence of a single, well-characterized genetic variant in fetal DNA. This test is especially valuable when a known pathogenic variant has already been identified in one or both parents, a previous child, or within the extended family.
Targeted genetic testing is used when there is prior knowledge of a specific genetic mutation associated with a condition. By concentrating on one specific variant, this test provides a rapid and cost-effective alternative to broader sequencing methods like whole exome or genome sequencing—while still delivering clinically meaningful results.
This package also includes Maternal Cell Contamination (MCC) analysis, a critical quality control step in prenatal genetic testing. MCC analysis evaluates whether maternal cells have contaminated the fetal sample (e.g., from amniotic fluid or chorionic villus sampling), which can compromise the accuracy of results. Confirming the integrity of the fetal DNA ensures greater confidence and reliability in the reported findings.