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Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders 2.02.46

Excellus BlueCross BlueShield·Neurology, Pediatrics, Internal Medicine·Genetic Disease (Inherited Disease)
Effective date
Sep 18, 2025
We identified it
Jun 20, 2026
Days to comply

Summary

Excellus BCBS updated their policy for whole exome and genome sequencing for genetic disorders, establishing specific coverage criteria for whole exome sequencing with trio testing while designating whole genome sequencing as investigational. The policy requires prior genetic testing, clinical genetics evaluation, and potential to change patient management for coverage approval.

Action Required

Action needed
By September 18, 2025: Billing team must update prior authorization requirements for whole exome sequencing claims to ensure documentation includes: 1) Prior genetic testing results (chromosomal microarray/targeted gene testing), 2) Clinical genetics evaluation with family history and phenotype description, 3) Evidence that diagnosis cannot be established by standard workup, and 4) Documentation of potential management changes. Note that whole genome sequencing is now considered investigational and will likely be denied. Update encounter forms to remind providers of these documentation requirements.