A chromosomal microarray analysis examines a patient’s DNA for variations in copy number, detecting gains or losses of genetic material. This diagnostic tool provides a high-resolution view of the genome, enabling clinicians to identify small changes in chromosomal structure that might be missed by traditional karyotyping. For example, this method can pinpoint a deletion of a few kilobases within a specific chromosome.
This genomic assessment offers significant advantages in diagnosing developmental delays, intellectual disabilities, autism spectrum disorders, and multiple congenital anomalies. It provides a deeper understanding of the underlying genetic causes of these conditions, facilitating more accurate diagnoses and personalized management strategies. Compared to older cytogenetic techniques, microarray analysis delivers a much more detailed picture of the genome, leading to significant advancements in diagnostic capabilities within clinical genetics.
