Reviewed by Avalon 4th Quarter 2022 CAB. Updated Description, Policy Guidelines and References, removed Related Policies section. Added code 81407 to Billing/Coding Section. Removed "or genetic testing will allow the affected patient to avoid invasive testing, including muscle biopsy.” from item 3 which now reads "For individuals who are clinically suspected of having limb-girdle muscular dystrophy (LGMD) but for whom a definitive diagnosis cannot be made without genetic testing when the results of testing may lead to changes in clinical management that improve outcomes (e.g., confirming or excluding the need for cardiac surveillance), genetic testing for mutations associated with LGMD is considered medically necessary." When Covered and When Not Covered sections edited for clarity. Medical Director review 1/2023.

Off-cycle review by Avalon 4th Quarter 2022 CAB. Updated Description, Policy Guidelines and References, removed Related Policies section. All coverage criteria were edited for clarity and consistency, Items 4 and 5 were removed and replaced with new item 4 “For individuals who have a clinical diagnosis of neurofibromatosis and who are planning to conceive, preconception screening for NF1 or NF2 gene mutations, when the individual has not previously received genetic screening for a pathogenic mutation is considered medically necessary.” Former item 6, now item 5, edited to reflect updated guidelines, changing the naming scheme from NF2 to NF2-schwannomatosis, as well as changes to clinical signs that warrant NF2 gene mutation testing, now reads: “5. For individuals who are clinically suspected of having NF2-related schwannomatosis, but for whom a definitive diagnosis and classification cannot be made without genetic testing, genetic testing for NF2 gene mutations is considered medically necessary when one of the following signs of NF2-related schwannomatosis is present:," subcriteria added. Former item 7, now item 6, changed to "one or more pathologically confirmed schwannoma or hybrid nerve sheath tumor, genetic testing for mutations in SMARCB1 and LZTR1 is considered medically necessary." Former item 9, now item 8, changed the age requirements for CMMRD testing from “in children and adolescents” to “For individuals 25 years and younger.” Medical Director review 1/2023.