Imagine a magical language that payers, providers, billers, and hospitals all speak fluently which leads to instantaneous coverage decisions and payments rendered for genetic testing services. What a world that would be!

The system of medical coding, both for services and symptoms, was intended to pave the way to this utopian healthcare solution. In practice, the coding systems have fallen a bit short, particularly in the ever-changing landscape of genetic testing. Many patients and providers often wonder why and how a five digit code could make such a difference in whether or not a genetic test gets authorized or whether a claim is ultimately paid.

So, what is a CPT code anyway?

CPT stands for Current Procedural Terminology. The CPT®️ code set is a product of the American Medical Association (AMA) for billing outpatient and office procedures. CPT codes were developed to serve many purposes:

  • Encourage use of standard terms and descriptors to document procedures in the medical record
  • Streamline reporting and provide uniform language for communication of medical services performed
  • Increase accuracy and efficiency of billing and research
How does the CPT coding system work in the real world?

Genetic testing may include analysis of one individual gene, a combination of a few genes, or analysis of thousands of genes. Additionally, tests often include different technologies within the same product or assay. This leads to confusion when a laboratory or payer needs to agree upon the correct code for the particular test in question.

Because there is a lack of guidance regarding correctness and accuracy of coding for genetic testing, we see significant variation. The intent of a coding system was instant recognition of a test so that automated systems could increase efficiency. When codes do not accurately reflect the test being performed, the result will be more manual systems, less automation, and delays.

At InformedDNA, we noticed that many authorizations were complicated or delayed due to the use of CPT coding that did not clearly reflect the test being performed and reported. In an effort to define the scope of this problem we did a study of more than 3,000 authorizations requests for genetic testing.

The InformedDNA Coding Study

We reviewed 3,139 authorization requests for genetic testing for two national insurance health plans. We categorized each request as having “accurate” or “inaccurate” coding for the test requested. Accurate coding means that the codes provided accurately reflect the test performed and reported, whereas inaccurate coding means that the CPT codes provided did not accurately reflect the actual test being performed. “Inaccurate” coding is not necessarily incorrect or inappropriate, but instead indicates that the CPT coding alone would not identify the test being performed.

Inaccurately coded test requests were classified according to three categories:

  • Incorrect: CPT code does not correspond to requested test
  • More Specific Code Available: a genomic sequencing panel CPT code was available for the requested test at time of request, but was not used
  • Undercoded: CPT codes used account for only a component of the test

Of 3,139 authorization requests, 30% were submitted with inaccurate coding.

Some tests were more likely to be inaccurately coded than others. Autism panels, Whole Exome Sequencing (WES), Pharmacogenetic, and Hereditary Cancer tests were the most likely to be inaccurately coded.

NIPT (87% accurate) and Rare single gene tests (85% accurate), Tumor Testing, and Hereditary Cardiac testing were likely to be accurately coded.

Why does this matter to payers, providers, and ultimately patients?
If 30% of requests are not coded accurately, then code-based automated systems are unlikely to work as well as intended. This results in delays, authorization of services which are not medically necessary, and denials of services that may be medically necessary. And, this high degree of inaccuracy and variation shows that laboratories need support to choose accurate codes, and they need input from payers regarding the way these codes are processed.

Additionally, it helps to identify specific areas of testing that seem to be more prone for inaccurate coding so that support can be directed appropriately. It may be helpful to know when certain types of tests may be accurately coded so these tests may be prioritized for automated systems.

Takeaway Points

  • Inaccurate coding practice, such as undercoding, may lead to the approval of a service that is not medically necessary.
  • Code-based review may not be accurately adjudicating requests, so it may be helpful to utilize genetics experts in genetic testing benefits management.
  • Communication is needed between payers and laboratories to establish preferred coding practices.


  • If a test is requested or authorized with inaccurate coding, it may lead to delays or lack of payment when a claim is processed.
  • In a landscape of varied coding, it can be difficult for providers to ensure they have requested the correct code for the test of interest.
  • Delays and lack of payment often result in additional administrative time spent by the provider’s office to sort out the process.
  • Access to genetics experts may increase the likelihood of appropriate and accurate coding for authorizations.

InformedDNA is the authority on the appropriate use of genetic tests. We employ the largest and most experienced full-time staff of lab-independent genetics specialists in the nation. To learn more about our genetic counseling services for health systems, or our Genetic Benefits Management™ services for health plans, please give us a call at 844-846-3763; send an email to; or, just fill out the form below and we’ll respond right away.


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