Healthcare Insights
Top genomic sequencing procedure codes
Medical advancements in genomic sequencing have led to the development of more than 40 Current Procedural Terminology (CPT) codes that are used to detect and diagnose genetic conditions.
What is genomic sequencing?
Genomic sequencing is a method of determining the genetic makeup of an organism or cell type. Using genomic sequencing to identify changes in areas of genomes can help scientists understand how diseases form and help to develop methods of diagnosing and treating them.
Using the Atlas All-Payor Claims dataset, we ranked the top 20 most common genomic sequencing CPT codes by percentage of total genomic sequencing procedures. The chart below represents claims filed in 2023 through October.
| Rank | CPT code | CPT code description | Percent of procedures | Explore dataset |
|---|---|---|---|---|
| 1 | 81479 | Unlisted molecular pathology procedure | 37.9% | Explore |
| 2 | 81420 | Fetal chromosomal aneuploidy genomic sequence analysis | 33.3% | Explore |
| 3 | 81455 | Genomic sequence analysis of solid organ or hematolymphoid neoplasm or disorder | 7.7% | Explore |
| 4 | 81443 | Genetic testing for severe inherited conditions | 5.5% | Explore |
| 5 | 81450 | Genomic sequence analysis of hematolymphoid neoplasm or disorder | 3.4% | Explore |
| 6 | 81422 | Fetal chromosomal microdeletion(S) genomic sequence analysis | 1.8% | Explore |
| 7 | 81445 | Solid Organ Neoplasm, genomic sequence analysis panel | 1.7% | Explore |
| 8 | 81456 | Genomic sequence analysis panel of solid organ or hematolymphoid neoplasm or disorder, 51 or greater genes | 1.5% | Explore |
| 9 | 81432 | Genomic sequence analysis panel for hereditary breast cancer-related disorders of at least 10 genes | 1.2% | Explore |
| 10 | 81418 | Genomic sequence analysis plan for drug metabolism of a least 6 genes | 1.2% | Explore |
| 11 | 81433 | Duplication/deletion analysis panel for hereditary breast cancer-related disorders | 1.0% | Explore |
| 12 | 81415 | Exome (Eg., unexplained constitutional or heritable disorder or syndrome); Sequence analysis | 0.7% | Explore |
| 13 | 81416 | Exome (Eg., unexplained constitutional or heritable disorder or syndrome); Sequence analysis, each comparator exome (Eg., parents, siblings) | 0.6% | Explore |
| 14 | 81460 | Whole mitochondrial genome; Sequence analysis of entire mitochondrial genome with heteroplasmy detection | 0.3% | Explore |
| 15 | 81465 | Whole mitochondrial genome large deletion analysis panel | 0.3% | Explore |
| 16 | 81412 | Genomic sequence analysis panel for Ashkenazi Jewish associated disorders of at least 9 genes | 0.2% | Explore |
| 17 | 81449 | Genomic sequence analysis panel of solid organ neoplasm | 0.2% | Explore |
| 18 | 81435 | Genomic sequence panel for hereditary colon cancer disorders of at least 10 genes | 0.2% | Explore |
| 19 | 81419 | Genomic sequence analysis panel for epilepsy | 0.2% | Explore |
| 20 | 81425 | Genome; Sequence analysis | 0.1% | Explore |
Fig. 1 Data is from the Atlas All-Payor Claims dataset and represents claims filed in 2023 through October. Data accessed December 2023.
What are the top CPT codes for genomic sequencing in 2023?
The most common genomic sequencing CPT code was unlisted molecular pathology procedures, accounting for 37.9% of all procedures billed in 2023 through October. This CPT code is used for molecular pathology procedures that do not have a designated code. Given the rapid growth of the number of molecular tests, insurers struggle to keep up with innovation in the field, leading some tests to not yet have their own billing codes. This top code on our list likely ranks so high because it encompasses this large array of procedures that do not yet have unique assigned CPT codes.
The second most common genetic sequencing procedure is fetal chromosomal aneuploidy genomic sequence analysis panel, accounting for 33.3% of all genomic sequencing CPT codes billed this year. This genetic testing procedure involves performing an analysis panel to evaluate fetal DNA in maternal blood, specifically looking at chromosomes 13, 18, and 21. These three chromosomes are commonly examined in noninvasive prenatal testing (NIPT) for trisomy, which is the presence of three chromosomes and may help identify potential fetal conditions such as Patau Syndrome, Edward Syndrome, and Down Syndrome.
Solid organ or hematolymphoid or disorder genomic sequence analysis panel was the third top genomic CPT code, accounting for 7.7% of all billed procedures. This procedure involves evaluating a patient specimen, like a tumor or bone marrow, for any DNA or RNA alterations in genes linked to organ, blood, and lymph cancers and disorders.
How does genome sequencing work?
In addition to aiding in the diagnosis and treatment of conditions and diseases, genome sequencing can be critical in identifying disease outbreaks. Scientists conduct genome sequencing tests in laboratories and follow four main steps:
- DNA shearing: Scientists cut the DNA into small pieces using molecular scissors. DNA pieces must be small enough for the machine to read.
- DNA barcoding: Scientists tag DNA pieces with identification to match sheared DNA to its respective bacteria.
- DNA sequencing: Multiple barcoded DNA are combined in a DNA sequencer which identifies the bases that make up each sequence. The sequencer uses the barcode to track which base belongs to which bacteria.
- Data analysis: Scientists compare sequences between bacteria to identify any differences.
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