Healthcare Insights

Top 20 molecular pathology procedure codes

Targeted molecular pathology testing is becoming more accessible to patients. There are over 220 Current Procedural Terminology (CPT) codes for these types of panels that guide the diagnosis and treatments for specific health conditions. Such testing is a proactive, rather than reactive, approach to healthcare.

How many molecular pathology tests are done each year?

Analysis of data from the Definitive Healthcare ClaimsMx product, breaks down molecular pathology medical procedure codes for the last two years. Between 2019 and 2020, the total number of molecular pathology claims decreased from nearly 450,000 to 371,000, potentially due to delays of care during the COVID-19 pandemic. The table below lists the molecular pathology procedure codes with the highest number of claims in 2020.

Molecular pathology procedure codes with most claims in 2020

RankCPT codeCPT code descriptionTotal procedures 2020Total procedures 2019Explore dataset
181220CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)32,93138,981Explore
281241F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant21,66327,939Explore
381240F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant18,20023,426Explore
481206BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative18,11821,531Explore
581270JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant14,84518,283Explore
681329SMN1 (Survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; doage/deletion analysis (eg, carrier testing), includes SMN2 (Survival of motor neuron 2, centromeric) analysis, if performed13,3209,632Explore
781243FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles10,70713,462Explore
881373HLA Class I typing, low resolution (eg, antigen equivalents); one locus (eg, HLA-A, -B, or -C), each9,7883,161Explore
981207BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative9,30410,665Explore
1081400Molecular pathology procedure, Level 19,1205,055Explore
1181268Chimerism (engraftment) analysis, post transplantation specimen (eg, hematopoietic stem cell), includes comparison to previously performed baseline analyses; with cell selection (eg, CD3, CD33), each cell type8,7568,367Explore
1281267Chimerism (engraftment) analysis, post transplantation specimen (eg, hematopoietic stem cell), includes comparison to previously performed baseline analyses; without cell selection8,1628,433Explore
1381371HLA Class I and II typing, low resolution (eg, antigen equivalents); HLA-A, -B, and -DRB1 (eg, verification typing)8,0341,410Explore
1481256HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)7,9899,724Explore
1581382HLA Class II typing, high resolution (ie, alleles or allele groups); one locus (eg, HLA-DRB1, -DRB3/4/5, -DQB1, -DQA1, -DPB1, or -DPA1), each7,9048,929Explore
1681379HLA Class I typing, high resolution (ie, alleles or allele groups); complete (ie, HLA-A, -B, and -C)7,8681,681Explore
1781229Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants, comparative genomic variants, comparative genomic hybridization (CGH) microarray analysis7,4359,615Explore
1881210BRAF (B-Raf proto-oncogene, serine/threonine kinase) (eg, colon cancer, melanoma), gene analysis, V600 variant(s)5,0516,891Explore
1981291MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C)5,0467,790Explore
2081402Molecular pathology procedure, Level 34,6973,782Explore

Fig. 1 Data from the Definitive Healthcare ClaimsMx product for calendar year 2019 and 2020. Commercial claims data is sourced from multiple medical claims clearinghouses in the United States and updated monthly. Data accurate as of October 2021

Which molecular pathology tests have the highest number of claims?

Common uses for molecular pathology testing are for evaluating inherited conditions and oncology. Tests for cystic fibrosis (81220), hereditary hypercoagulability (81241 and 81240), chronic myelogenous leukemia (81206) and myeloproliferative disorder (81270) are the most performed molecular pathology tests. While many of the top molecular pathology procedures codes had fewer overall claims in 2020 compared to 2019, the same codes appear in the same top five rank in both years.

In addition to diagnosing types of and risk factors for certain types of cancer, molecular pathology plays a role in cancer treatment. Three HLA typing codes (81373: HLA Class I typing, low resolution, 81371: HLA Class I and II typing, low resolution and 81379: HLA Class I typing, high resolution) each had over 6,000 additional claims in 2020 compared to 2019. These codes relate to stem cell and bone marrow transplants and testing for treating patients with cancer.

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