Clinical Context
A pediatric or pediatric-adolescent patient presents to a genetics clinic or neurodevelopmental specialty clinic because of global developmental delay, intellectual disability, autism spectrum disorder, congenital anomalies, or unexplained developmental regression. The referring clinician (pediatrician, pediatric neurologist, clinical geneticist) documents a detailed history, family history, and physical exam noting dysmorphic features or neurologic findings. After initial metabolic, imaging, and chromosomal microarray or targeted testing are considered, the clinician orders the SMASH™ test (0156U) from New York Genome Center, Marvel Genomics™ to perform copy-number sequence analysis for detection of submicroscopic deletions, duplications, and other copy-number variants associated with physical and mental developmental disorders.
Specimen collection is typically peripheral blood drawn in an outpatient clinic, hospital outpatient phlebotomy, or inpatient pediatric unit. The sample is sent to the performing laboratory with accompanying clinical documentation and the appropriate order form. The laboratory performs next-generation sequencing–based copy number analysis, interprets detected variants against established databases and clinical guidelines, and returns a report including pathogenic, likely pathogenic, and variants of uncertain significance relevant to developmental disorders. Results are reviewed by the ordering clinician and genetic counseling is provided when actionable findings are reported. Billing uses the PLA code 0156U for the proprietary SMASH™ test.