CPT® Code 81412

1. Indications

The genomic sequence analysis panel represented by CPT® Code 81412 is indicated for the identification of specific genetic disorders that are prevalent among individuals of Ashkenazi Jewish descent. The following conditions are explicitly associated with this testing:

• Bloom syndrome - A genetic disorder characterized by short stature, sun-sensitive skin changes, and an increased risk of cancer.
• Canavan disease - A severe neurological disorder that affects the brain's ability to break down a specific compound, leading to progressive loss of motor skills and cognitive function.
• Cystic fibrosis - A hereditary disorder that affects the lungs and digestive system, leading to severe respiratory and gastrointestinal complications.
• Familial dysautonomia - A genetic condition that affects the autonomic nervous system, leading to issues with blood pressure regulation, temperature control, and sensory perception.
• Fanconi anemia group C - A rare genetic disorder that affects bone marrow and leads to decreased production of blood cells, increasing the risk of cancer.
• Gaucher disease - A genetic disorder resulting from the accumulation of fatty substances in certain organs, leading to various symptoms including enlargement of the liver and spleen.
• Tay-Sachs disease - A fatal genetic disorder that results in the destruction of nerve cells in the brain and spinal cord, typically leading to severe neurological impairment.

2. Procedure

The procedure for CPT® Code 81412 involves several critical steps to ensure accurate genomic analysis. First, a blood sample is obtained from the patient through a venipuncture, which is a separate reportable procedure. This blood sample is then processed to extract DNA for testing. The genomic sequence analysis is performed using array-based genotyping techniques, which allow for the simultaneous examination of multiple genes. The panel specifically includes sequencing of at least nine genes: ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1. Each gene is analyzed for mutations that are known to be associated with the aforementioned disorders. The results of this analysis provide valuable information regarding the presence of genetic mutations, which can aid in diagnosis, treatment planning, and genetic counseling for affected individuals and their families.

• Step 1: Blood Sample Collection - A blood sample is obtained from the patient via venipuncture, which is necessary for the subsequent genetic analysis.
• Step 2: DNA Extraction - The collected blood sample undergoes processing to extract DNA, which is essential for the genomic analysis.
• Step 3: Genomic Sequence Analysis - The extracted DNA is subjected to array-based genotyping, allowing for the sequencing of the specified genes associated with Ashkenazi Jewish disorders.
• Step 4: Mutation Identification - The analysis focuses on identifying mutations within the nine targeted genes, which are linked to various genetic disorders prevalent in the Ashkenazi Jewish population.

3. Post-Procedure

After the genomic sequence analysis is completed, the results are compiled and interpreted by a qualified healthcare professional. Patients may receive genetic counseling to discuss the implications of the test results, including the potential for inherited disorders and the options available for management or treatment. Follow-up care may be necessary depending on the findings, particularly if mutations associated with specific disorders are identified. It is important for patients to understand the significance of their results and to consider the impact on family members, as many of these conditions are inherited. Additionally, healthcare providers may recommend further testing or screening for family members based on the results of the initial analysis.