CPT® Code 81407

1. Indications

The following conditions and symptoms are explicitly indicated for the performance of Level 8 molecular pathology procedures under CPT® Code 81407:

• Familial Hyperinsulinism - Associated with mutations in the ABCC8 gene.
• Glycogen Storage Disease Type III - Related to mutations in the AGL gene.
• Joubert Syndrome - Linked to mutations in the AHI1 gene.
• Familial Hypercholesterolemia Type B - Associated with mutations in the APOB gene.
• Primary Microcephaly - Related to mutations in the ASPM gene.
• CHARGE Syndrome - Linked to mutations in the CHD7 gene.
• Alport Syndrome - Associated with mutations in the COL4A4 and COL4A5 genes.
• Collagen Type VI-Related Disorders - Related to mutations in the COL6A1, COL6A2, and COL6A3 genes.
• Rubinstein-Taybi Syndrome - Linked to mutations in the CREBBP gene.
• Hemophilia A - Associated with mutations in the F8 gene.
• Alagille Syndrome - Related to mutations in the JAG1 gene.
• X-Linked Intellectual Disability - Linked to mutations in the KDM5C gene.
• Spastic Paraplegia - Associated with mutations in the KIAA0196 gene.
• MASA Syndrome and X-Linked Hydrocephaly - Related to mutations in the L1CAM gene.
• Pierson Syndrome - Linked to mutations in the LAMB2 gene.
• Familial Hypertrophic Cardiomyopathy - Associated with mutations in the MYBPC3 gene.
• Familial Dilated Cardiomyopathy - Related to mutations in the MYH6 and MYH7 genes.
• Usher Syndrome, Type 1 - Linked to mutations in the MYO7A gene.
• Aortic Valve Disease - Associated with mutations in the NOTCH1 gene.
• Congenital Finnish Nephrosis - Related to mutations in the NPHS1 gene.
• Polycystic Kidney Disease - Linked to mutations in the PKD1 gene.
• Nephrotic Syndrome Type 3 - Associated with mutations in the PLCE1 gene.
• Generalized Epilepsy with Febrile Seizures - Related to mutations in the SCN1A gene.
• Familial Dilated Cardiomyopathy - Linked to mutations in the SCN5A gene.
• Bartter Syndrome - Associated with mutations in the SLC12A1 gene.
• Gitelman Syndrome - Related to mutations in the SLC12A3 gene.
• Spastic Paraplegia - Linked to mutations in the SPG11 gene.
• Spinocerebellar Ataxia - Associated with mutations in the SPTBN2 gene.
• Joubert Syndrome - Related to mutations in the TMEM67 gene.
• Tuberous Sclerosis - Linked to mutations in the TSC2 gene.
• Usher Syndrome, Type 1 - Associated with mutations in the USH1C gene.
• Cohen Syndrome - Related to mutations in the VPS13B gene.
• Primary Autosomal Recessive Microcephaly - Linked to mutations in the WDR62 gene.

2. Procedure

The procedure for performing a Level 8 molecular pathology test involves several critical steps that ensure accurate analysis and interpretation of genetic material. The following procedural steps are outlined:

• Step 1: Patient Evaluation - The process begins with a comprehensive evaluation of the patient's medical history and clinical findings. This assessment is crucial for determining the relevance of the molecular pathology test and guiding the selection of specific genes to analyze.
• 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 subsequent analysis.
• Step 3: DNA Extraction - The DNA is extracted from the collected sample using standardized laboratory techniques. This step is essential to isolate the genetic material needed for testing.
• Step 4: DNA Analysis - The extracted DNA undergoes various analyses, including sequencing of 26 to 50 exons, mutation scanning, or duplication/deletion variant analysis of more than 50 exons. This step may also involve the simultaneous analysis of multiple genes on a single platform, enhancing the efficiency of the testing process.
• Step 5: Data Interpretation - After the analysis is complete, the molecular pathologist interprets the results, correlating them with the patient's clinical information and other diagnostic findings. This interpretation is critical for understanding the implications of the genetic findings.
• Step 6: Reporting - A detailed written report is generated, summarizing the findings of the molecular pathology test. This report includes information on any identified mutations, their potential clinical significance, and recommendations for further management or testing if necessary.

3. Post-Procedure

Following the completion of the Level 8 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 decision-making. Depending on the results, additional testing or referrals to specialists may be recommended. It is essential for healthcare providers to communicate the results effectively to the patient and to consider the potential impact on treatment options and family planning. Continuous monitoring and support may also be necessary, especially in cases involving hereditary conditions.