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Official Description

Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis

© Copyright 2026 American Medical Association. All rights reserved.

Common Language Description

Molecular genetic testing, specifically genome sequence analysis, is a sophisticated procedure that delves into the genetic makeup of an individual to identify potential heritable disorders or syndromes. This testing focuses on both coding and non-coding regions of DNA, which are crucial for understanding genetic functions and variations. Whole genome sequencing (WGS) is a comprehensive approach that allows for the examination of the entire genome, making it a valuable tool for diagnosing rare genetic disorders, particularly in patients who exhibit atypical symptoms or characteristics. Additionally, WGS can be utilized by healthy individuals who wish to determine their carrier status for familial diseases or assess their risk for developing adult-onset medical conditions. The process begins with the collection of a blood sample, which is obtained through a separately reportable venipuncture. Following this, advanced techniques such as next-generation sequencing are employed to analyze the DNA. The results of this analysis are reported using CPT® Code 81425, which specifically denotes the genome sequence analysis for unexplained constitutional or heritable disorders or syndromes.

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