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BCBS KS – Update Genetic Testing for the Diagnosis of Inherited Peripheral Neuropathies
April 5, 202203-08-2022 Updated Description Section Updated Policy guidelines ▪ Added “Genetics Nomenclature Update” Section Updated Rationale Section Updated Coding Section:
- Removed Coding bullets o There is specific CPT coding for genetic testing for PMP22 deletions and duplications, full sequencing, and familial variant testing: 81324, 81325, 81326, 81448.
- CPT Tier 2 code 81403 includes the following testo GJB1 (gap junction protein, beta 1) (e.g., Charcot-Marie-Tooth Xlinked), full gene sequence.
- CPT Tier 2 code 81404 includes the following tests–
- EGR2 (early growth response 2) (e.g., Charcot-Marie-Tooth), full gene sequence
- HSPB1 (heat shock 27kDa protein 1) (e.g., Charcot-Marie-Tooth disease), full gene sequence
- LITAF (lipopolysaccharide-induced TNF factor) (e.g., Charcot-MarieTooth), full gene sequence
- CPT Tier 2 code 81405 includes the following tests–
- GDAP1 (ganglioside-induced differentiation-associated protein 1) (e.g., Charcot-Marie-Tooth disease), full gene sequence.
- MPZ (myelin protein zero) (e.g., Charcot-Marie-Tooth), full gene sequence
- NEFL (neurofilament, light polypeptide) (e.g., Charcot-Marie-Tooth), full gene sequence
- PRX (periaxin) (e.g., Charcot-Marie-Tooth disease), full gene sequence
- RAB7A (RAB7A, member RAS oncogene family) (e.g., Charcot-MarieTooth disease), full gene sequence.
- CPT Tier 2 code 81406 includes the following tests–
- FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing [S. cerevisiae]) (e.g., Charcot-Marie-Tooth disease), full gene sequence
- GARS (glycyl-tRNA synthetase) (e.g., Charcot-Marie-Tooth disease), full gene sequence
- LMNA (lamin A/C) (e.g., Emery-Dreifuss muscular dystrophy [EDMD1, 2 and 3] limb-girdle muscular dystrophy [LGMD] type 1B, dilated cardiomyopathy [CMD1A], familial partial lipodystrophy [FPLD2]), full gene sequence
- MFN2 (mitofusin 2) (e.g., Charcot-Marie-Tooth disease), full gene sequence.
- SH3TC2 (SH3 domain and tetratricopeptide repeats 2) (e.g., CharcotMarie-Tooth disease), full gene sequence
- For the other genes listed above, there is no specific CPT listing of the test and the unlisted molecular pathology code 81479 would be reported.