Appeal type: Experimental/Investigational
Decision: Overturned

Diagnosis: Infertility.
Treatment: CPT (current procedural terminology) code 81228, cytogenomic constitutional (genome-wide) micro-assay analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo- based comparative genomic hybridization [CGH] micro-assay analysis).
The insurer denied coverage for CPT code 81228, cytogenomic constitutional (genome-wide) micro-assay analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo- based comparative genomic hybridization [CGH] micro-assay analysis).
The denial is overturned.

The patient is a female with a history of infertility. Genetic evaluation revealed that the patient's spouse was found to be a carrier for hypertrophic cardiomyopathy. This is an autosomal dominant trait, and the couple's children have a 50% (percent) chance of having this condition.  The patient underwent invitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene diseases (PGT-M) and preimplantation genetic testing for aneuploidy (PGT-A). In other words, the embryos were biopsied and tested to see if they were affected by hypertrophic cardiomyopathy (PGT-M) and if they were euploid (PGT-A).

The documentation detailed the patient's husband was a carrier of an autosomal dominant condition. As a result, a fertility specialist recommended that the samples of the embryos be tested to see which embryos may be genetically affected by hypertrophic cardiomyopathy given that the offspring would have a 50/50 chance of having this condition. PGT-M has been used with increasing frequency for preconception management. Prenatal diagnosis and pregnancy termination are also employed for the management of serious single-gene diseases. The Practice Committee of the American Society for Reproductive Medicine (ASRM) recommended PGT-M with IVF as a significant advance over post-conception diagnosis and pregnancy termination in the case of single-gene (monogenic) disorders. 

As per the American College of Obstetricians and Gynecologists (ACOG), the clinical utility of preimplantation genetic testing-monogenic is firmly established.

In this case, the code 81228 includes both PGT-M and PGT-A. While PGT-M was required, PGT-A is still considered an experimental procedure that is not likely to be more beneficial than any of the standard treatments/procedures for this patient. Testing for hypertrophic cardiomyopathy (PGT-M) is medically necessary but testing for aneuploidy (PGT-A) is still considered experimental/investigational and therefore not medically necessary. However, the same code is used for both, so 81228 is considered medically necessary.

The scientific evidence in peer-reviewed literature supports a result of improvement in health outcome. The requested service has final approval from the appropriate regulatory bodies for this diagnosis. The patient is a good candidate for the requested service. It is the best available treatment for this patient at this time. The requested service is likely to be more beneficial than any of the standard treatments/procedures for this patient. The adverse risks are not increased over standard treatment/services. 

The carrier's denial of CPT code 81228, cytogenomic constitutional (genome-wide) micro-assay analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo- based comparative genomic hybridization [CGH] micro-assay analysis) provided is overturned.