2025 CPT code 81161
(Active) Effective Date: N/A Revision Date: N/A Genetic Analysis - Molecular Pathology Procedures Pathology and Laboratory Feed
Analysis of deletions and duplications in the dystrophin gene (DMD), associated with Duchenne and Becker muscular dystrophy.
Modifier 26 may be added if only the physician's interpretation and report are provided, and the laboratory technical component was performed by another entity.
Medical necessity for 81161 is typically established by clinical presentation consistent with Duchenne or Becker muscular dystrophy (e.g., progressive muscle weakness, elevated CK levels), or by a family history of the condition justifying carrier screening.Payers may have specific criteria for coverage.
The clinical responsibility lies with the laboratory analyst who performs all technical aspects of the test, from DNA extraction and amplification to the detection of deletions and duplications. A physician or other qualified healthcare professional may interpret the results and prepare the report (potentially billed separately with modifier 26).
In simple words: This lab test checks for missing or extra pieces of the DMD gene, which can cause Duchenne or Becker muscular dystrophy. The lab analyzes the patient's DNA to look for these changes.
This CPT code encompasses the technical component of analyzing deletions and duplications within the dystrophin gene (DMD).The procedure includes nucleic acid extraction (e.g., cell lysis, digestion), amplification to increase the quantity of DNA for analysis, and detection of the target gene using methods such as nucleic acid probes.The test identifies disease-associated deletions (missing sequences) and, if performed, duplications (extra sequences) in the DMD gene.While not limited to specific conditions, it's commonly used for diagnosing Duchenne and Becker muscular dystrophy and identifying carrier status.
Example 1: A male patient presents with progressive muscle weakness, and elevated creatine kinase levels.The physician orders 81161 to confirm a diagnosis of Duchenne muscular dystrophy., A female patient with a family history of Duchenne muscular dystrophy undergoes carrier screening with this test (81161) to determine if she carries a DMD gene mutation., A patient with suspected Becker muscular dystrophy has 81161 performed to identify deletions or duplications in the DMD gene, assisting in diagnosis and prognosis.
* Patient's clinical history, including symptoms and family history.* Results of physical examination, focusing on muscle strength and function.* Serum creatine kinase (CK) levels.* Appropriately labeled specimen, including patient identification and collection date.* Detailed report of the molecular pathology analysis.
** The results of this test may influence further genetic counseling and family planning decisions.The clinical interpretation should be performed by a qualified medical professional.
- Payment Status: Active
- Modifier TC rule: This code includes the technical component; modifier 26 can be used if the professional component is billed separately.
- Specialties:Medical Genetics, Neurology, Clinical Pathology
- Place of Service:Laboratory