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 upheld.

The patient is a female with a history of infertility. Testing was done and 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 without intervention. Microassay testing was done in order to ensure that implanted embryos do not carry this trait.

Familial Hypertrophic cardiomyopathy (HCM) occurs as an autosomal dominant Mendelian-Inherited disorder in approximately 50% of cases. A mutation in the sarcomere protein gene encoding for contractile elements of the heart has been found, with 6 different genes on at least 4 chromosomes being associated with HCM. More than 50 different mutations have been identified. The phenotypic expression may vary according to the mutation involved, with a variability of symptoms and degree of severity of the hypertrophy expressed.

Preimplantation genetic testing for monogenic disorders (PGT-M) has been used worldwide with increasing frequency. The Practice Committee of the American Society for Reproductive Medicine (ASRM), in its Opinion, recommended PGT-M with invitro fertilization (IVF) as a significant advance over post-conception diagnosis and pregnancy termination in the case of single-gene (monogenic) disorders. The ASRM, in its Practice Committee Opinion, states: "This opinion concludes that PGT-M is also ethically permissible in the case of genetically transmitted conditions that are highly serious and manifest in adulthood. Comprehensive counseling by a genetic counselor knowledgeable in the field of PGT-M prior to the start of the IVF (in vitro fertilization) process is critical to ensure that patients are adequately counseled before determining their course of action. Prenatal diagnostic testing via chorionic villus sampling (CVS) or amniocentesis to confirm the results obtained with PGT-M, or as alternative to PGT-M, should also be discussed with couples as part of their pre-IVF genetic counseling. PGT-M was initially developed to identify IVF embryos that carried genes for serious, childhood-onset diseases...".

There is no evidence in the submitted medical records that comprehensive genetic counseling was provided to the patient. Therefore, the standard of care was not met. Therefore, the scientific evidence in peer-reviewed literature does not support a result of improvement in health outcome. The patient is not a good candidate for the requested service. The requested service does not have final approval from the appropriate regulatory bodies for this diagnosis. It is not the best available treatment for this patient at this time. The requested service is not likely to be more beneficial than any of the standard treatments/procedures for this patient

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 upheld.