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Healthcare Insights

Top 20 molecular pathology procedure codes

Molecular pathology is rapidly transforming healthcare, offering powerful tools for diagnosing diseases, guiding treatment decisions, and monitoring patient progress. But with a growing number of tests available, which procedures are most frequently performed?

This Healthcare Insight dives into the most common procedures, exploring the top molecular pathology tests based on data from our Atlas All-Payor Claims Dataset. Data on high-volume procedures and providers can be used to uncover opportunities in the market, surface potential customers, and more.

How many molecular pathology tests are done each year?

Molecular pathology testing has been increasingly used in various medical fields for diagnosing diseases, guiding treatment decisions, and monitoring disease progression. Medical claims data from Definitive Healthcare can help identify the number of molecular pathology tests billed and reimbursed within a given timeframe. The table below lists the molecular pathology procedure codes with the highest percentage of claims in 2023.

Molecular pathology procedure codes with most claims in 2023

RankHCPCS/CPT CodeDescription% of proceduresExplore dataset
181241Factor V gene6.8%Explore
281206BCR/ABL1 gene major breakpoint6.2%Explore
381240Prothrombin (Factor II) gene5.9%Explore
481382HLA class II typing, 1 locus, high resolution4.8%Explore
581270Janus kinase 2 gene4.5%Explore
681220Cystic fibrosis transmembrane conductance regulator gene comprehensive variants4.1%Explore
781268Chimerism analysis with cell selection4.0%Explore
881256Hemochromatosis gene3.6%Explore
981207BCR/ABL1 gene minor breakpoint3.4%Explore
1081374HLA class I typing, 1 antigen, low resolution2.9%Explore
1181376HLA class II typing, 1 locus, low resolution2.8%Explore
1281329Survival motor neuron 1 gene dosage/deletion analysis2.6%Explore
1381378HLA class I and II typing, high resolution2.5%Explore
1481267Chimerism analysis without cell selection2.4%Explore
1581243Fragile X mental retardation 1 gene analysis; detection of abnormal alleles2.0%Explore
1681229Cytogenomic analysis chromosomal abnormality SNP microarray; abnormality detection2.0%Explore
1781403Molecular pathology procedure, level 41.6%Explore
1881219Calreticulin gene comprehensive variants1.5%Explore
1981370HLA class I and II typing, low resolution1.5%Explore
2081373HLA class I typing, 1 locus, low resolution1.3%Explore

Fig. 1 Data is from our Atlas All-Payor Claims dataset and represents the percentage of total molecular pathology procedures performed in 2023 through December. Data accessed March 2024.

Which molecular pathology tests have the highest percentage of claims?

Genetic testing dominates our list of most common molecular pathology procedures performed in the inpatient hospital setting in 2023. These include tests for hereditary blood clotting disorders (Factor V gene and Prothrombin/Factor II gene), chronic myelogenous leukemia (BCR/ABL1 gene major breakpoint), cystic fibrosis, and more. These tests are vital for early diagnosis, assessing disease risk or prognosis, and proper management of these conditions.

Immunogenetics is another area where molecular pathology plays a significant role, particularly in tests related to human leukocyte antigen (HLA) typing procedures, which see a high percentage of claims. These tests are essential in assessing compatibility between donors and recipients in transplantation procedures and understanding the genetic basis of immune-related disorders.

Finally, chimerism analysis is another frequently performed procedure. Chimerism analysis is a molecular diagnostic technique used to assess the presence and proportion of genetically distinct cell populations within an individual. It’s a valuable tool in transplant medicine, specifically hematopoietic stem cell transplantation (HSCT), where donor cells are infused into a recipient to replace diseased or damaged cells. Chimerism analysis helps assess graft success, monitor for complications such as graft rejection or relapse, and guide clinical decision-making.

Overall, these trends in molecular pathology testing highlight a strong emphasis on genetic testing, particularly in oncology and immunogenetics. This reflects advancements in technology allowing for improved diagnostics and personalized medicine approaches. While the number of claims might fluctuate year-to-year, the consistent presence of these tests in top ranks underscores their continued importance in healthcare.

What is a Tier 1 and Tier 2 molecular pathology code?

Tier 1 and Tier 2 are categories within the Current Procedural Terminology (CPT) coding system specifically for molecular pathology procedures. These tiers are used by payors to categorize and reimburse molecular pathology tests based on their complexity and clinical utility. Here's what each tier generally represents:

  • Tier 1: Tier 1 codes typically represent commonly performed molecular pathology tests that are considered to have established clinical utility and are widely used in clinical practice. These tests often involve well-established methodologies and target well-known genetic alterations associated with specific diseases. Reimbursement rates for Tier 1 codes may be more standardized and may have broader coverage by payors.
  • Tier 2: Tier 2 codes typically represent molecular pathology tests that are newer, less common, or more specialized than those classified as Tier 1. These tests may involve emerging technologies, novel biomarkers, or genetic alterations with limited clinical validation or utility. Reimbursement for Tier 2 codes may vary more widely among payors, and coverage may be subject to additional scrutiny or requirements.

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Healthcare Insights are developed with data from the Definitive Healthcare platform. Want even more insights? All-payor claims data can also be used to pinpoint healthcare providers and facilities performing the highest volumes of these procedures and tests. Start a free trial now and get access to the highest quality data and intelligence on hospitals, physicians, and other healthcare providers.