CPT® Code 81161

1. Indications

The molecular genetic testing represented by CPT® Code 81161 is indicated for the following conditions:

• Duchenne Muscular Dystrophy (DMD) - This severe form of muscular dystrophy typically manifests in early childhood, leading to rapid progression of muscle weakness and loss of mobility.
• Becker Muscular Dystrophy (BMD) - A milder variant of muscular dystrophy that progresses more slowly than DMD, but still requires genetic testing for accurate diagnosis.
• Screening for Deletion Defects - The test is specifically designed to identify deletion defects in the dystrophin gene, which is critical for confirming a diagnosis of either DMD or BMD.
• Screening for Duplication Defects - The analysis also includes the detection of duplications in the dystrophin gene, which can be relevant for a comprehensive understanding of the genetic basis of the disease.

2. Procedure

The procedure for conducting the molecular genetic testing under CPT® Code 81161 involves several key steps:

• Sample Collection - A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis.
• DNA Extraction - The DNA is extracted from the collected sample using standard laboratory techniques to ensure that it is suitable for testing.
• Testing for Deletions - The extracted DNA is analyzed for deletions in the dystrophin gene using methods such as Southern blotting with complementary DNA (cDNA) probes or polymerase chain reaction (PCR). This step is crucial for identifying any missing segments of the gene that could lead to muscular dystrophy.
• Testing for Duplications - In addition to deletions, the analysis includes testing for duplications in the dystrophin gene. This is performed concurrently with deletion analysis to provide a comprehensive genetic profile.
• Result Interpretation - Once the testing is complete, the results are interpreted by a qualified geneticist or laboratory specialist, who will provide a report detailing the findings related to the presence of deletions or duplications in the dystrophin gene.

3. Post-Procedure

After the molecular genetic testing is completed, the following post-procedure considerations are important:

Patients may need to discuss the results with their healthcare provider to understand the implications of the findings. If a deletion or duplication is identified, genetic counseling may be recommended to help the patient and their family understand the condition, its inheritance patterns, and potential management options. Additionally, follow-up testing or evaluations may be necessary based on the results to monitor the patient's health and any progression of symptoms associated with Duchenne or Becker muscular dystrophy.