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This is a Proprietary Laboratory Analyses (PLA) code, meaning that the code applies to only one unique lab test made by a specific manufacturer or performed by a specific lab. Report 0659U only for GenomeDx ultraRapid, Proband from GeneDx. This test analyzes nuclear and mitochondrial DNA from a blood or buccal sample using ultrarapid whole genome sequencing by next–generation sequencing (NGS). The test identifies and categorizes genetic variants, including single–nucleotide variants (SNVs), insertions/deletions, copy number variants, uniparental disomy, and repeat expansions. It is used for rare constitutional or heritable disorders, which are genetic conditions caused by changes present in the body's cells that can be inherited or arise early in development.
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