Chromosomal microarray analysis (CMA) is a powerful diagnostic tool that detects chromosomal abnormalities that can cause developmental delays, congenital anomalies or other genetic conditions in children. CMA identifies submicroscopic deletions and duplications (copy number variations, CNV) that cannot be detected by conventional karyotyping.
It is recommended for unexplained developmental delays, intellectual disability, autism spectrum disorders, congenital anomalies or other complex conditions where a chromosomal cause is suspected.
Conditions Diagnosed
- Developmental delay / intellectual disability: Identifies CNVs associated with neurodevelopmental disorders.
- Autism spectrum disorders: Detects genetic variations that may contribute to autism.
- Congenital anomalies: Identifies chromosomal imbalances that cause physical malformations.
- Rare genetic disorders: Helps diagnose rare conditions by detecting unique or recurrent CNVs.