CPT® Code 81417

1. Indications

The indications for performing the procedure associated with CPT® Code 81417 include the following:

• Unexplained Constitutional Disorder The procedure is indicated for patients who present with a constitutional disorder that has not been previously explained through standard diagnostic methods.
• Heritable Disorder or Syndrome It is also indicated for individuals suspected of having a heritable disorder or syndrome, where genetic testing may provide insights into the underlying genetic causes.
• Re-evaluation of Previous Exome Sequence The procedure is warranted when there is a need to re-evaluate a previously obtained exome sequence due to updated knowledge in the field of genetics or when assessing for unrelated conditions or syndromes that may have emerged since the initial analysis.

2. Procedure

The procedure for CPT® Code 81417 involves several key steps, which are detailed as follows:

• Step 1: Sample Collection A blood sample is obtained from the patient through a separately reportable venipuncture. This sample serves as the source of DNA for the subsequent analysis.
• Step 2: DNA Extraction The DNA is extracted from the collected blood sample, ensuring that the genetic material is suitable for sequencing. This step is critical for obtaining high-quality results.
• Step 3: Exome Sequencing The extracted DNA undergoes whole exome sequencing (WES), which focuses on the protein-coding regions of the genome. This process utilizes Next Generation Sequencing (NGS) technology to analyze the exome in depth.
• Step 4: Variant Analysis The sequencing results are analyzed to identify genetic variants, including single nucleotide variants (SNVs), small DNA insertions or deletions (indels), copy number variants (CNVs), and other structural variants (SVs). This analysis aims to uncover potential disease-causing mutations.
• Step 5: Interpretation of Results The identified variants are interpreted in the context of the patient's clinical presentation and family history. This step may involve comparing the results with existing databases and literature to assess the significance of the findings.

3. Post-Procedure

After the completion of the exome sequencing and analysis, the patient may require follow-up consultations to discuss the results. The healthcare provider will review the findings with the patient, explaining any identified genetic variants and their potential implications for diagnosis, treatment, or management of the condition. Additionally, if new information or updated knowledge regarding genetic conditions becomes available, further evaluations or testing may be recommended. It is essential for the healthcare team to provide appropriate counseling and support to the patient and their family, particularly if the results indicate a heritable condition that may affect other family members.