Patients who have an intellectual disability are often evaluated to identify an underlying genetic etiology

Patients who have an intellectual disability are often evaluated to identify an underlying genetic etiology, including an initial evaluation for associated copy number changes. If genetic etiology is not identified, sequence-level analysis (large gene panel or all coding genes) may be pursued. The laboratory generates a single genomic, raw dataset that is then initially used for copy number detection. The laboratory uses low-pass whole genome sequencing at a 30x depth and analyzes only for copy number gains and losses and patterns of loss of heterozygosity, similar to typical chromosomal microarray. While the definition of "low-pass" includes a read depth that is typically between 0.1x and 5x, the wording is permissive of higher-read depths. What would be the appropriate code to report for this service?

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CPT Knowledgebase - Dec 1, 2025