2025 CPT code 81349
(Active) Effective Date: N/A Revision Date: N/A Cytogenomic Analysis - Molecular Pathology Procedures Pathology and Laboratory Feed
Genome-wide cytogenomic analysis for constitutional chromosomal abnormalities using low-pass sequencing to detect copy number variants and loss of heterozygosity.
Modifiers may be applicable depending on the circumstances of service. Consult the CPT manual and NCCI edits for guidance.
Medical necessity for 81349 is established when there is clinical suspicion of a constitutional chromosomal abnormality based on the patient's presentation (e.g., developmental delays, intellectual disability, multiple congenital anomalies, family history). This testing is often considered medically necessary to guide diagnosis and treatment decisions.
The clinical responsibility lies with the ordering physician who interprets the results and integrates them with the patient's clinical presentation to establish a diagnosis, prognosis, and treatment plan. The laboratory performs the technical component of the test.
In simple words: This lab test uses advanced technology to examine a person's entire DNA for changes in gene amounts or unusual patterns that might cause developmental problems or disabilities.It checks for extra or missing parts of genes and looks for long stretches of identical DNA. The results help doctors understand the cause of developmental issues.
This CPT code encompasses a genome-wide cytogenomic analysis for constitutional chromosomal abnormalities.The analysis utilizes low-pass whole genome sequencing (a high-throughput next-generation sequencing [NGS] technology) to identify copy number variants (CNVs), which represent increases or decreases in the number of copies of a gene sequence, and long stretches of homozygous DNA (indicative of potential genetic changes associated with developmental delays or disabilities). The procedure includes DNA extraction, amplification, NGS analysis of the entire genome, and bioinformatic interpretation of the results.All analytical services (cell lysis, nucleic acid stabilization, extraction, digestion, amplification, and detection) are included.
Example 1: A 3-year-old child presents with significant developmental delays, including speech impairment and motor skill deficits. The physician orders 81349 to screen for underlying genetic conditions that may contribute to these developmental issues., A newborn infant exhibits multiple congenital anomalies.To identify potential genetic causes for these anomalies, the pediatrician orders 81349 as part of a comprehensive genetic evaluation., A patient with a family history of intellectual disability and autism spectrum disorder is referred for genetic testing. 81349 is ordered to provide a broader assessment of potential genetic contributions.
* Patient demographics and relevant clinical history (including family history of genetic disorders).* Reason for ordering the test (e.g., developmental delays, congenital anomalies, family history).* Specimen collection information (type of sample, date, and time of collection).* Report of results from the laboratory, including interpretation of findings by a qualified health professional.
** This test may be used as a first-tier test, potentially reducing the need for subsequent more targeted genetic tests.Always confirm payer-specific coverage requirements before ordering.
- RVU: The RVUs for this code will vary based on geographic location and other factors. Consult your local Medicare fee schedule or private payer's fee schedule for specific values.
- Global Days: Not applicable. This is a laboratory test, not a surgical procedure.
- Payment Status: Active
- Modifier TC rule: Modifier TC (technical component) is not applicable to this code as it's a comprehensive test including both technical and professional components.
- Fee Schedule: Historical fee schedules are not available in this dataset. Consult the appropriate fee schedules for the relevant year.
- Specialties:* Medical Genetics* Clinical Genetics* Pediatric Genetics* Cytogenetics* Pediatric* Neurology
- Place of Service:* Office* Hospital (Inpatient or Outpatient)* Clinical Laboratory