Whole Genome Sequencing (WGS) is an analysis of a patient’s entire nuclear and mitochondrial genomes. Compared to gene panels which only examine specific changes in a small subset of DNA, WGS can capture virtually all disease-causing genetic variations in both coding and non-coding regions, making it the most comprehensive germline genetic testing.
It is suitable for patients who have a broad spectrum of phenotypic features without an obvious clinical diagnosis.
Indications for testing include Intellectual Disability, Autism Spectrum Disorders, Differential Diagnoses, Development Delays, Multiple Congenital Anomalies, Failure to Thrive, Patients with Extensive Disease, Dysmorphic Features, Epilepsy Syndromes, Neurodevelopment Disorders.