2025 CPT code 81415
Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence analysis
Exome sequencing is medically necessary when a genetic etiology is suspected for a patient's condition, particularly for rare Mendelian disorders or complex presentations where other testing has been uninformative. It can aid in diagnosis, guide management, inform prognosis, and provide information for family planning.
In simple words: This test examines the parts of your genes that provide instructions for making proteins. It helps doctors find genetic differences that may explain your symptoms or a condition you have. It's particularly helpful for diagnosing rare genetic disorders or when other tests haven't found an answer.
This test analyzes the exons, which are the protein-coding regions of the approximately 20,000 genes in the human genome. It is used to identify genetic variants that may be the underlying cause of a patient's symptoms or condition. This test is particularly useful for patients with rare Mendelian diseases, developmental delays, intellectual disabilities, congenital anomalies or unexplained epilepsy when a genetic cause is suspected.
Example 1: A 6-month-old infant presents with developmental delay and seizures. Previous testing has not identified a cause. Exome sequencing is ordered to evaluate for a genetic disorder., A young child has multiple congenital anomalies and developmental delays. Exome sequencing is performed to aid in diagnosis and guide management., An adult with an unexplained, complex neurological disorder undergoes exome sequencing to search for a genetic explanation.
Detailed clinical information about the patient's presentation, including family history, medical records, and relevant previous testing results, should be provided to aid in interpretation. Informed consent is crucial, addressing potential incidental findings.
- Specialties:Medical Genetics, Pediatrics, Neurology, Oncology
- Place of Service:Office, Inpatient Hospital, Outpatient Hospital, Independent Clinic