Covered without prior authorization (high confidence)
Documentation Required
Rigorous clinical evaluation should precede diagnostic molecular testing.
Disease-specific diagnostic criteria or clinical findings as listed throughout the policy must be documented (e.g., Amsterdam II or revised Bethesda for Lynch syndrome; Schwartz score for LQTS; clinical criteria for Marfan Syndrome [see Appendix]; clinical features lists for Angelman, Prader-Willi, CADASIL, etc.).
For general medical necessity: documentation that all of the following are met: The member displays clinical features, or is at direct risk of inheriting the mutation (pre-symptomatic); and The result of the test will directly impact the treatment being delivered to the member; and After history, physical examination, pedigree analysis, genetic counseling, and completion of conventional diagnostic studies, a definitive diagnosis remains uncertain and a suspected diagnosis is listed; and Disease-specific criteria met.
Key Coverage Criteria
Loeys-Dietz syndrome (TGFBR1, TGFBR2): Testing medically necessary when: asymptomatic individual has affected first-degree relative with known deleterious mutation (test for familial mutation); or to confirm diagnosis in individual with LDS characteristics (begin with TGFBR2 sequencing, then TGFBR1 if negative).
For whole exome sequencing: documentation that member and family history have been evaluated by a Board-Certified or Board-Eligible Medical Geneticist; member receives pre- and post-test counseling by an independent provider (e.g., ABMG or ABGC-certified Genetic Counselor or APGN credentialed by GNCC or ANCC); alternate etiologies considered and ruled out when possible; clinical presentation does not fit a well-described syndrome for which single-gene/panel testing is available; WES more efficient than separate single-gene tests/panels; diagnosis cannot be made by standard clinical work-up (excluding invasive procedures); documentation that WES is predicted to have impact on health outcomes (treatment, surveillance, palliative care, reduce diagnostic uncertainty, or inform reproductive counseling).
Testing strategies often require documentation of family testing/results: e.g., specific familial APC, DMD, MUTYH, VHL, and many other genes—where a familial mutation is known, documentation of that mutation and rationale for targeted testing must be provided; full sequencing often only when family-specific mutation cannot be identified first.
For Factor V Leiden and F2 testing: documentation of abnormal APC resistance assay result (for Factor V Leiden) and clinical/family history indications as listed (e.g., first unprovoked VTE, recurrent VTE, VTE associated with OCP/HRT, pregnancy-related VTE, family history of VTE <50 years, etc.).