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2025 CPT code 81271

HTT (huntingtin) (e.g., Huntington disease) gene analysis; evaluation to detect abnormal (e.g., expanded) alleles

In simple words: This test analyzes the HTT gene in a sample like blood to see if there are any unusual changes, particularly expansions, which could indicate Huntington's disease or carrier status for the disease.

This code represents the laboratory analysis of the HTT gene to detect the presence of abnormal alleles, typically expanded alleles due to an increase in the number of CAG trinucleotide repeats. This test aids in the diagnosis of Huntington disease (HD) and in determining carrier status.

Example 1: A 40-year-old individual with a family history of Huntington's disease exhibits early symptoms, such as involuntary jerking movements and mood changes. The physician orders the 81271 test to confirm the diagnosis., A 25-year-old individual whose parent has Huntington's disease wants to know if they carry the abnormal gene. Genetic counseling and testing using 81271 are recommended., A patient with an existing diagnosis of Huntington’s disease is monitored using 81271 to assess the progression of the genetic changes over time in correlation to observed symptoms.

Documentation should include the patient's symptoms, family history of Huntington's disease, and the reason for testing (diagnostic or carrier status determination). The type of specimen collected and the laboratory technique employed should also be documented.

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