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

This is the case 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 wias done in order to ensure that implanted embryos do not carry this trait.

This patient and her husband is a heterozygous carrier for a the autosomal dominant variant [p.Thr1377Met (T1377M)] within this MYH7 (gene that provides instruction for making protein). Hence, there is a 50% chance of this dominant trait for hypertrophic cardiomyopathy being expressed in this couple's offspring without this preimplantation genetic testing for monogenic/single gene diseases (PGT-M) testing. Furthermore, since this patient is of age, the literature clearly justifies the need to also permit preimplantation genetic testing for aneuploidy (PGT-A) testing if desired by this couple. The literature states that women in her age group have a 50% incidence of having aneuploid embryos in their blastocyst embryos, and at an later age, have a 90% incidence of aneuploidy in their blastocyst embryos. The majority of the blastocysts resulting from this female would therefore be aneuploid (genetically abnormal). The literature supports and justifies the medical need for women to undergo PGT-A. Furthermore, since the PGT-M is justified and medically necessary, it would be negligent to test and exclude this autosomal dominant gene causing hypertrophic cardiomyopathy without confirming whether these unaffected embryos are euploid or not. This insurance plan should cover the requested services including both PGT-A and PGT-M since they are medically justified and necessary.  

There is scientific evidence in peer -reviewed literature to support a result of improvement in health outcome.

The requested service does have final approvals from the appropriate regulatory bodies for this diagnosis.

The requested services (procedures) noted above with the appropriate CPT codes to carry out both PGT-A and PGT-M for the reasons noted above are likely to be more beneficial than any of the standard/less sophisticated treatments for this patient.

The adverse risks are not increased over these less sophisticated standard procedures.

In conclusion, all of the requested services (procedures) that were carried out should be covered by this insurance plan since they have been demonstrated to be beneficial to this couple for the reasons cited above.

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.