Appeal type: Experimental/Investigational
Decision: Upheld

Reviewer#1

Diagnosis: Carrier of cystic fibrosis

Treatment: CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)]

The insurer denied coverage for CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)]. 

The denial is upheld.

This patient is a female with a history of infertility and cystic fibrosis (CF) carrier. Her partner was also a carrier of cystic fibrosis. To prevent the birth of a child affected by this condition, the patient underwent in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). CPT 88299 was performed to develop a probe against this couples' mutation. Testing was performed on the cells retrieved from the embryos. Testing was performed to evaluate the embryos for cystic fibrosis status but also for aneuploidy (CPT 81228 and CPT 99000). Of note, the patient was not a carrier of any chromosomal anomaly. 

According to literature review, CPT codes 88299 [Unlisted cytogenetic study] has final approval from the appropriate regulatory bodies for this diagnosis. CPT code 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)] has final approval from the appropriate regulatory bodies for this diagnosis. 

Both the patient and her partner are carriers of the cystic fibrosis genes so IVF and PGD was done to prevent the birth of a child affected by this condition. In addition, genetic testing and probe preparation was appropriate prior to proceeding with IVF. Thus, this patient would be considered a good candidate for CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)] as long as 81228 was used to evaluate for cystic fibrosis and not for aneuploidy. 

The embryos biopsies underwent testing for cystic fibrosis PGT-M (preimplantation genetic testing for monogenic/single gene defects) but also for chromosomal anomaly PGTA (preimplantation genetic testing for aneuploidies formerly known as PGS). While testing the embryos for cystic fibrosis PGT-M was appropriate, there was no indication for PGTA. The patient did not have any chromosomal anomaly and neither the American College of Obstetricians and Gynecologists (ACOG) nor the American Society for Reproductive Medicine (ASRM) recommend routine screening of embryos for aneuploidy prior to transfer.

In this case, the code 81228 includes both PGT-M and PGT-A. While PGT-M was required PGT-A is not likely to be more beneficial than any of the standard treatments/procedures for this patient.

The carrier's denial of coverage for CPT codes 88299 [Unlisted cytogenetic study] and 81228 [cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CHG] microarray analysis)]; testing performed should be upheld.