Chromosomal Microarray(CMA315k) - Affymetrix Cytoscan Optima without MCC, POC

Chromosomal Microarray (CMA315k) – Affymetrix CytoScan Optima without MCC, POC

Chromosomal Microarray Analysis (CMA315k) using the Affymetrix CytoScan Optima platform is an advanced genomic test designed to detect chromosomal abnormalities associated with pregnancy loss and genetic disorders. This test is performed on Products of Conception (POC) samples and helps identify genetic causes of miscarriage, stillbirth, or fetal abnormalities. The “without MCC” protocol indicates that Maternal Cell Contamination (MCC) analysis is not included in the test workflow.

Test Purpose

This test helps detect:

• Chromosomal gains and losses (copy number variations)
• Aneuploidies such as Trisomy 13, 18, 21
• Microdeletion and microduplication syndromes
• Regions of Loss of Heterozygosity (LOH/AOH)
• Uniparental Disomy (UPD)
• Triploidy and mosaicism in selected cases

Technology & Platform

The assay uses the Affymetrix CytoScan Optima 315K microarray platform featuring:

• Approximately 315,000 genomic markers
• 18,018 CNV probes
• 148,450 SNP markers
• Enhanced coverage of clinically relevant prenatal regions
• High-resolution genome-wide chromosomal analysis

Clinical Indications

Recommended for:

• Recurrent pregnancy loss
• Miscarriage evaluation
• Stillbirth analysis
• Abnormal fetal ultrasound findings
• Suspected chromosomal abnormalities in fetal tissue
• Genetic counseling for future pregnancies

Sample Type

• Products of Conception (POC) tissue sample

Advantages

• Detects abnormalities not visible on routine karyotyping
• Higher diagnostic yield compared to conventional cytogenetics
• Does not require actively dividing cells
• Faster and more comprehensive genomic evaluation
• Useful for identifying genetic causes of pregnancy loss

Limitations

• Balanced translocations may not be detected
• Point mutations and small gene-level variants are not identified
• Maternal Cell Contamination (MCC) testing is not included
• Clinical correlation and genetic counseling are recommended for interpretation

Turnaround Time

• Typically 10–14 working days depending on sample quality and laboratory workflow.