MedGenome's chromosomal microarray analysis (CMA) is an advanced, microarray-based diagnostic platform designed for high-resolution genetic analysis. It utilises copy number variation (CNV) and single-nucleotide polymorphism (SNP) probes, which hybridise to specific chromosomal regions, allowing for precise detection of submicroscopic genetic abnormalities. This test enables genome-wide analysis on a single chip, providing superior detection of CNVs, including deletions, duplications, regions of homozygosity (ROH), uniparental disomy (UPD) and aneuploidies across all chromosomes including triploidy.
| Parameter | Details | |
|---|---|---|
| Prenatal Testing | ||
| Pregnancy Loss & Recurrent Miscarriages | ||
| Congenital Anomalies | ||
| Neurodevelopmental Disorders |
Average Probe Spacing: Optimised for targeted regions
ROH Detection: 5 Mb (>3% of total Autosomes)
Mosaicism Detection: ≥30%
Special Features: Well covered 396 prenatal regions
TAT: 10 Working Days
Test Code: MGM 514
Total Markers: 750,344 (SNPs – 200K; CN – 550K)
Average Probe Spacing: 4,181 bp
ROH Detection: 3 Mb (>3% of total Autosomes)
Mosaicism Detection: ≥30%
Special Features: Hybrid SNP/CN probes
TAT: 10 Working Days
Test Code: MGM 294
Total Markers: ~700K
Average Probe Spacing: 2,800 bp
ROH Detection: 3 Mb (>3% of total Autosomes)
Mosaicism Detection: ≥30%
Special Features: Well covered for 4,885 genes
TAT: 14 Working Days
Test Code: MGM 2741
Features a well-established High-throughput workflow and an extensive database for high-accuracy microarray data interpretation.
Provides high-resolution detection of submicroscopic copy number variations (deletions and duplications), aneuploidies, triploidy, mosaicism, regions of homozygosity (ROH), and uniparental disomy (UPD).
Utilises an advanced microarray chipset for comprehensive genomic analysis.
Please share your details to get
in touch with our experts.
