Comprehensive dysmorphic panel

The Comprehensive Dysmorphic Panel is a genetic test designed to investigate the underlying molecular causes of dysmorphic features, congenital abnormalities, and associated developmental or clinical findings. Using next-generation sequencing (NGS), the test analyzes genes associated with a broad range of genetic syndromes and conditions characterized by distinctive facial features, skeletal abnormalities, growth disturbances, and multisystem involvement.
The test can identify disease-associated genetic variants, including single-nucleotide variants (SNVs) and small insertions and deletions (indels), with copy number variant (CNV) detection included where validated by the assay. Results may support clinical diagnosis, guide further investigations and clinical management, and provide information for genetic counseling and family planning.