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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Note:  The following article synopsis was NOT provided by the AMA. It was created by Find-A-Code/innoviHealth.

Article Overview

This article explains a genomic laboratory coding scenario relevant to genetic evaluation of intellectual disability. It discusses how the testing workflow is described, the general type of genomic analysis performed, and the coding question raised by that service. It is aimed at medical coders, billers, and laboratory professionals who need to understand whether the described service fits the applicable genomic analysis code family.

Why This Topic Matters

Correctly classifying genome-wide laboratory services affects accurate reporting of genetic testing performed during evaluation of intellectual disability. The article helps readers understand the scope of the assay being discussed so they can determine the appropriate code family for similar services.

Codes Discussed

• CPT: 81349

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