CMA 750K with Clinical Exome Sequencing With MCC

CMA 750K with Clinical Exome Sequencing (CES) with MCC

Test Overview:
CMA 750K with Clinical Exome Sequencing (CES) with MCC is a comprehensive genetic test that combines:

1. Chromosomal Microarray Analysis (CMA 750K) – Detects chromosomal deletions, duplications, aneuploidies, regions of homozygosity, and other copy number variations across the genome.
2. Clinical Exome Sequencing (CES) – Analyzes the protein-coding regions (exons) of clinically relevant genes to identify disease-causing genetic variants associated with inherited disorders.
3. MCC (Maternal Cell Contamination Analysis) – Evaluates prenatal samples to determine whether maternal cells are present in the fetal specimen, helping ensure accurate interpretation of genetic results.

Clinical Applications

• Developmental delay and intellectual disability
• Autism spectrum disorders
• Multiple congenital anomalies
• Unexplained neurological disorders
• Suspected genetic syndromes
• Prenatal diagnosis of fetal abnormalities
• Cases where routine genetic testing is inconclusive

Sample Required

• Peripheral blood (EDTA)
• Amniotic fluid
• Chorionic Villus Sampling (CVS)
• Genomic DNA (depending on indication)

Advantages

• Detects both large chromosomal abnormalities and single-gene mutations in a single testing strategy.
• Higher diagnostic yield compared to standalone CMA or exome testing.
• Useful for complex and undiagnosed genetic conditions.
• Provides comprehensive genomic evaluation for prenatal and postnatal cases.

Turnaround Time

Typically 2–6 weeks, depending on the laboratory and complexity of analysis.