Two Targeted Variant Testing with MCC

Two Targeted Variant Testing + Maternal Cell Contamination (MCC) is a specialized genetic testing package designed to detect the presence or absence of two specific, well-characterized genetic variants in fetal DNA. This test is particularly useful when a known pathogenic variant has already been identified in one or both parents or in a previous pregnancy.
Targeted genetic testing focuses on specific genes or variants that are already known to be associated with a medical condition. This approach allows for quicker, more cost-effective analysis compared to broader tests like whole exome or genome sequencing, while still providing highly relevant and actionable results.
Included in this package is Maternal Cell Contamination (MCC) analysis, an essential quality control measure in prenatal testing. MCC analysis assesses whether maternal cells are present in the fetal sample (e.g., amniotic fluid or chorionic villi), which can compromise the accuracy of the test. By confirming the purity of the fetal DNA sample, MCC analysis enhances the reliability and clinical confidence of the test results.

Key Features:
Targeted analysis of two known genetic variants
Designed for use in cases with previously identified familial mutations
Includes MCC testing to ensure result validity in prenatal samples
Suitable for carrier confirmation, prenatal diagnosis, or follow-up of inherited conditions
Faster turnaround time and lower cost compared to full sequencing
This test is interpreted by certified specialists and supports informed clinical decision-making for families and healthcare providers involved in genetic counseling, prenatal care, or inherited disease management.