Chromosomal Microarray Analysis (CMA 750K) using the Affymetrix CytoScan 750K platform is a high-resolution genomic test designed to detect chromosomal abnormalities across the entire genome. It identifies clinically significant copy number variations (CNVs) such as microdeletions, microduplications, regions of homozygosity (ROH), and loss of heterozygosity (LOH) that may be associated with genetic disorders and certain cancers. The CytoScan 750K array contains over 750,000 genomic markers, enabling precise genome-wide analysis.
What Does This Test Detect?
Chromosomal microdeletions and microduplications
Copy Number Variations (CNVs)
Loss of Heterozygosity (LOH)
Regions of Homozygosity (ROH)
Uniparental Disomy (UPD) indications
Genomic imbalances associated with congenital disorders and oncology conditions
Recommended For
Developmental delay or intellectual disability
Autism spectrum disorders
Multiple congenital anomalies
Unexplained genetic disorders
Prenatal cases with abnormal ultrasound findings
Oncology patients requiring genomic copy number analysis
Sample Required
Peripheral Blood / Bone Marrow / Prenatal Sample (as advised by the clinician)
Benefits
✅ Genome-wide high-resolution analysis ✅ Detects abnormalities not visible on routine karyotyping ✅ Identifies clinically relevant CNVs with greater sensitivity ✅ Supports diagnosis, prognosis, and genetic counseling ✅ Valuable tool for both constitutional and oncology genetic investigations
Why Choose Advanced BioCare Laboratories?
Advanced genomic testing platform
Expert interpretation by molecular genetics specialists