Concert Genetic Testing: Prenatal and Preconception Carrier Screening

This policy covers prenatal and preconception carrier screening, including basic multi-gene panels (up to 14 genes) and specific single-gene or targeted tests (e.g., CFTR sequencing/known-variant testing, SMN1 for SMA, FMR1 for fragile X, hemoglobinopathy panels, DMD) for pregnant individuals, prospective parents, and those with high-risk ancestry or a family history of a genetic condition. Coverage is limited to basic panels that include key genes (CFTR, SMN1, FMR1, HBB/HBA1/HBA2), requires targeted partner testing when a familial pathogenic variant is identified, strongly recommends genetic counseling, and generally considers expanded panels beyond 14 genes investigational or subject to additional justification, with negative results leaving a residual carrier risk.

"Carrier screening to identify individuals at risk of having offspring with inherited recessive single-gene disorders."