Copy Number Variant (CNV) Detection by sequencing - Microarray

This diagnostic test is designed to identify clinically significant copy number variations (CNVs), including chromosomal deletions and duplications, using targeted Next-Generation Sequencing (NGS) technology.

By analyzing read-depth data across targeted genomic regions, the assay enables sensitive and accurate detection of submicroscopic chromosomal imbalances that may not be be identified by conventional cytogenetic methods such as karyotyping. The test provides high-resolution CNV analysis to support the diagnosis of a broad range of genetic disorders.

This test is indicated for patients with clinical features suggestive of a genetic condition, developmental delay, intellectual disability, congenital anomalies, neurodevelopmental disorders, hereditary diseases, abnormal laboratory or imaging findings, or a family history of genetic disorders. It may also be used to further investigate suspected chromosomal abnormalities identified through other clinical or molecular assessments.

The results support clinicians and genetic counselors in establishing a molecular diagnosis, assessing disease risk, guiding clinical management, informing prognosis, and facilitating genetic counseling and family planning.