CMA 750K with Whole Exome Sequencing (WES) with MCC

Overview

CMA 750K with Whole Exome Sequencing (WES) with MCC is a comprehensive genetic test that combines Chromosomal Microarray Analysis (CMA 750K) and Whole Exome Sequencing (WES) to detect a broad spectrum of genetic abnormalities. The addition of MCC (Maternal Cell Contamination) analysis ensures accurate interpretation of fetal or prenatal samples by identifying and accounting for any maternal DNA contamination.

This combined approach improves diagnostic accuracy for individuals with developmental disorders, congenital anomalies, intellectual disabilities, unexplained genetic conditions, and prenatal abnormalities.

What the Test Detects

• Chromosomal deletions and duplications (Copy Number Variants)
• Microdeletions and microduplications
• Aneuploidies (abnormal chromosome numbers)
• Single nucleotide variants (SNVs)
• Small insertions and deletions (Indels)
• Disease-causing mutations in coding regions of genes
• Regions of homozygosity (ROH)
• Uniparental disomy (selected cases)
• Maternal cell contamination (MCC) in prenatal specimens

Recommended For

• Fetuses with abnormal ultrasound findings
• Developmental delay or intellectual disability
• Autism spectrum disorders
• Multiple congenital anomalies
• Suspected inherited genetic disorders
• Prenatal diagnostic evaluation
• Previous pregnancy with a genetic disorder
• Unexplained pregnancy complications
• Individuals with complex or undiagnosed genetic conditions

Sample Required

• Chorionic Villus Sample (CVS), Amniotic Fluid, or Fetal Tissue (Prenatal)
• Peripheral Blood (Postnatal)
• Sample requirements may vary based on clinical indication.

Test Method

• Chromosomal Microarray Analysis (750K Array)
• Whole Exome Sequencing (Next-Generation Sequencing)
• Maternal Cell Contamination (MCC) Analysis

Benefits

• Comprehensive evaluation in a single test
• High-resolution detection of chromosomal abnormalities
• Identifies disease-causing variants across thousands of genes
• Improved prenatal diagnostic accuracy with MCC analysis
• Supports early diagnosis and clinical decision-making
• Helps guide treatment, management, and genetic counseling

When is this Test Recommended?

Your healthcare provider may recommend this test if there is:

• An abnormal prenatal ultrasound
• A family history of genetic disorders
• Unexplained developmental delay or congenital anomalies
• Suspicion of a rare inherited condition
• Need for comprehensive prenatal genetic evaluation

Turnaround Time

Approximately 4–8 weeks (may vary depending on sample type and laboratory workflow).

Interpretation

Results should always be interpreted by a qualified clinical geneticist or genetic counselor in conjunction with clinical findings and family history.

Why Choose This Test?

By combining CMA 750K, Whole Exome Sequencing, and Maternal Cell Contamination (MCC) analysis, this test offers one of the most comprehensive genetic evaluations available, increasing the likelihood of identifying clinically significant genetic abnormalities while ensuring reliable prenatal results.