In simple words: This test analyzes a person's complete DNA sequence to identify genetic changes that may be causing an unexplained medical condition, especially in newborns with complex medical issues.

This code represents a whole genome sequence analysis. It is used for the evaluation of unexplained congenital anomalies or neurodevelopmental disorders, particularly in newborns with complex syndromes or disorders where a genetic basis is suspected. The entire genome is analyzed to identify potential pathogenic variants.

Example 1: A newborn in the NICU presents with multiple congenital anomalies and developmental delays. After a thorough clinical evaluation, a neonatologist, in consultation with a medical geneticist, orders whole genome sequencing (81425) to identify any underlying genetic causes for the infant's condition., An infant with unexplained seizures and developmental regression undergoes metabolic testing and imaging studies, which yield no definitive diagnosis. The neurologist, after genetic counseling with the family, orders whole genome sequencing to investigate a potential genetic etiology., A child with a complex neurodevelopmental disorder and dysmorphic features has undergone chromosomal microarray analysis and targeted gene testing, which were negative. To further evaluate for a genetic diagnosis, the clinical geneticist recommends whole genome sequencing.

Documentation should include detailed clinical findings, family history of genetic disorders, and pre- and post-test genetic counseling. Any prior genetic testing results should also be included.