CPT® Code 81408

1. Indications

The Level 9 molecular pathology procedure, as defined by CPT® Code 81408, is indicated for a variety of genetic conditions. The following are specific indications for which this procedure may be performed:

• Stargardt disease - Associated with mutations in the ABCA4 gene.
• Age-related macular degeneration - Also linked to the ABCA4 gene.
• Ataxia telangiectasia - Related to mutations in the ATM gene.
• Usher syndrome, type 1 - Caused by mutations in the CDH23 gene.
• Joubert syndrome - Associated with mutations in the CEP290 gene.
• Osteogenesis imperfecta, type I - Linked to mutations in the COL1A1 and COL1A2 genes.
• Brain small-vessel disease with hemorrhage - Related to mutations in the COL4A1 gene.
• Alport syndrome - Associated with mutations in the COL4A3 and COL4A5 genes.
• Duchenne/Becker muscular dystrophy - Caused by mutations in the DMD gene.
• Limb-girdle muscular dystrophy - Related to mutations in the DYSF gene.
• Marfan syndrome - Associated with mutations in the FBN1 gene.
• Spinocerebellar ataxia - Linked to mutations in the ITPR1 gene.
• Congenital muscular dystrophy - Caused by mutations in the LAMA2 gene.
• Parkinson disease - Associated with mutations in the LRRK2 gene.
• Thoracic aortic aneurysms and aortic dissections - Related to mutations in the MYH11 gene.
• Nemaline myopathy 2 - Caused by mutations in the NEB gene.
• Neurofibromatosis, type 1 - Associated with mutations in the NF1 gene.
• Autosomal recessive polycystic kidney disease - Linked to mutations in the PKHD1 gene.
• Malignant hyperthermia - Related to mutations in the RYR1 gene.
• Catecholaminergic polymorphic ventricular tachycardia - Associated with mutations in the RYR2 gene.
• Usher syndrome, type 2 - Caused by mutations in the USH2A gene.
• Cohen syndrome - Linked to mutations in the VPS13B gene.
• Von Willebrand disease types 1 and 3 - Associated with mutations in the VWF gene.

2. Procedure

The procedure for performing a Level 9 molecular pathology test involves several critical steps, each designed to ensure accurate and comprehensive analysis of the genetic material. The following outlines the procedural steps:

• Step 1: Patient Evaluation - The molecular pathologist begins by thoroughly reviewing the patient's medical history and clinical findings. This evaluation is essential to understand the context of the genetic testing and to identify any relevant symptoms or previous diagnostic results that may influence the interpretation of the test.
• Step 2: Sample Collection - A biological sample, typically blood or tissue, is collected from the patient. This sample serves as the source of DNA for the analysis. Proper collection and handling of the sample are crucial to prevent contamination and ensure the integrity of the genetic material.
• Step 3: DNA Extraction - The DNA is extracted from the collected sample using standardized laboratory techniques. This step involves breaking down the cellular structure to isolate the DNA, which will be analyzed for genetic variations.
• Step 4: DNA Sequencing - The extracted DNA undergoes sequencing, specifically targeting more than 50 exons of the gene of interest. This process involves determining the precise order of nucleotides in the DNA, which is critical for identifying mutations or variations that may be associated with specific genetic disorders.
• Step 5: Data Analysis - Once sequencing is complete, the resulting data is analyzed using bioinformatics tools. This analysis helps to identify any pathogenic variants present in the gene, which may contribute to the patient's condition.
• Step 6: Interpretation of Results - The molecular pathologist interprets the sequencing results in the context of the patient's clinical information. This interpretation is vital for understanding the implications of any identified genetic variants.
• Step 7: Reporting - Finally, a detailed written report is generated, summarizing the findings of the analysis. This report includes information on any identified mutations, their potential clinical significance, and recommendations for further action or management based on the results.

3. Post-Procedure

After the completion of the Level 9 molecular pathology procedure, the patient may require follow-up consultations to discuss the results and their implications. The molecular pathologist will provide a comprehensive report that outlines the findings, which can guide further clinical decisions, including potential treatment options or additional testing. It is essential for healthcare providers to communicate the results effectively to the patient, ensuring they understand the significance of any identified genetic variants. Additionally, the molecular pathologist may recommend genetic counseling for the patient and their family, especially if the results indicate a hereditary condition. This counseling can help address any concerns regarding the implications of the findings for family members and future health considerations.