CPT® Code 81244

1. Indications

The FMR1 gene analysis performed under CPT® Code 81244 is indicated for the following conditions and symptoms:

• Fragile X Syndrome - A genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
• X-Linked Intellectual Disability (XLID) - A form of intellectual disability that is linked to mutations on the X chromosome.
• Autism Spectrum Disorders - A group of developmental disorders characterized by difficulties with social interaction and communication, as well as restricted and repetitive behavior.
• Premature Ovarian Failure - A condition where the ovaries stop functioning before the age of 40, which can be associated with FMR1 gene mutations.
• Parkinson's Disease - A progressive neurological disorder that may have links to mutations in the FMR1 gene.
• FXTAS (Fragile X-associated Tremor/Ataxia Syndrome) - A late-onset condition that affects movement and cognitive function, associated with pre-mutation expression of the FMR1 gene.

2. Procedure

The procedure for CPT® Code 81244 involves several key steps to analyze the FMR1 gene:

• Step 1: Sample Collection - A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis.
• Step 2: DNA Extraction - The DNA is extracted from the collected sample using standard laboratory techniques to ensure purity and integrity for testing.
• Step 3: PCR Amplification - Polymerase chain reaction (PCR) is employed to amplify the specific region of the FMR1 gene that contains the CGG repeat sequence, allowing for detailed analysis of the gene's structure.
• Step 4: Allele Characterization - The amplified DNA is analyzed to characterize the alleles, focusing on the number of CGG repeats and assessing the promoter methylation status, which can influence gene expression.
• Step 5: Interpretation of Results - The results are interpreted by a qualified geneticist or laboratory specialist, who will determine if the alleles are normal, pre-mutation, or full mutation, and provide insights into the implications for the patient.

3. Post-Procedure

After the FMR1 gene analysis under CPT® Code 81244, patients may receive genetic counseling to discuss the results and their implications. If a mutation is identified, further evaluations may be recommended to assess associated risks, particularly for conditions like FXTAS or premature ovarian failure. Patients and their families may also be informed about the potential for learning disabilities or developmental issues in children. Follow-up appointments may be scheduled to monitor any emerging symptoms or to provide additional support and resources as needed.