CPT® Code 81243

1. Indications

The FMR1 gene analysis performed under CPT® Code 81243 is indicated for the evaluation of individuals who may be at risk for Fragile X syndrome and X-linked intellectual disability (XLID). The following conditions and symptoms warrant this genetic testing:

• Fragile X Syndrome - A genetic condition that causes a range of developmental issues, including intellectual disability and behavioral challenges.
• X-Linked Intellectual Disability (XLID) - A form of intellectual disability that is inherited in an X-linked manner, often associated with mutations in the FMR1 gene.
• Autism Spectrum Disorders - Individuals presenting with symptoms of autism may be evaluated for FMR1 gene mutations, as there is a notable association with Fragile X syndrome.
• Premature Ovarian Failure - Women with a family history of early ovarian insufficiency may undergo testing to assess for FMR1 gene mutations that could predispose them to this condition.
• Parkinson's Disease - Some studies suggest a potential link between FMR1 mutations and the development of Parkinson's disease, prompting genetic evaluation.
• Learning Disabilities - Children exhibiting learning difficulties may be tested for FMR1 gene abnormalities to rule out Fragile X syndrome as a contributing factor.

2. Procedure

The procedure for CPT® Code 81243 involves several key steps to accurately analyze the FMR1 gene for abnormal or expanded alleles. The following procedural steps are undertaken:

• Sample Collection - A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis. This sample serves as the basis for the genetic testing.
• DNA Extraction - The DNA is extracted from the collected sample using standardized laboratory techniques to ensure purity and integrity for subsequent analysis.
• Polymerase Chain Reaction (PCR) - The extracted DNA undergoes PCR amplification, a process that selectively replicates the FMR1 gene region of interest, allowing for sufficient quantities of DNA to be analyzed.
• Sequencing Analysis - The amplified DNA is then subjected to sequencing to determine the number of CGG repeats in the FMR1 gene. This step is critical for identifying whether the gene exhibits normal, premutation, or full mutation characteristics.
• Data Interpretation - The results of the sequencing are interpreted by a qualified geneticist or laboratory specialist, who assesses the findings to determine the presence of abnormal or expanded alleles.
• Reporting - A comprehensive report is generated, detailing the findings of the FMR1 gene analysis, including the number of CGG repeats and any identified mutations. This report is then provided to the referring physician for further clinical decision-making.

3. Post-Procedure

After the FMR1 gene analysis is completed, the following post-procedure considerations are important for patient care and follow-up:

Patients may receive genetic counseling to discuss the implications of the test results, especially if a mutation is identified. This counseling can help patients and their families understand the potential risks for Fragile X syndrome and related conditions, as well as the options available for management and support. Additionally, if a premutation is detected, patients may be informed about the increased risk of developing associated conditions such as FXTAS or premature ovarian failure. Regular follow-up appointments may be recommended to monitor any emerging symptoms or health issues related to the identified genetic risk. Overall, the results of the FMR1 gene analysis play a crucial role in guiding clinical management and support for affected individuals and their families.