Pathology/Lab Coding Alert

Question: Our lab performs genetic testing for cystic fibrosis looking only at CFTR common variants. What is the correct procedure code, and is this test covered?

South Dakota Subscriber

Answer: The appropriate code for the test you describe is 81220 (CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)).

Alternatives: If the lab tests for other variants, you might use a different code such as one of the following:

• 81221 (… known familial variants)
• 81222 (… duplication deletion variants)
• 81223 (… full gene sequence)
• 81224 (… intron 8 poly-T analysis (eg, male infertility))

Payment: Coverage for 81220 varies by payer. Some Medicare payers don’t cover the test as medically reasonable and necessary. Other payers, such as BlueCross BlueShield (BCBS), cover the test in certain circumstances. For instance, BCBS may cover codes in the 81120 group for patients with a family history of CF who are pregnant or planning pregnancy, newborn patients following an inconclusive CF screening test (such the tests discussed below), or to aid in the diagnosis or treatment planning for individuals with other conditions indicative of CF. (See www.bcbsm.com/amslibs/content/dam/public/mpr/mprsearch/pdf/2003175.pdf.)

Variants: Because the code descriptor doesn’t specify the exact variants, this code is appropriate for tests such as the CFvantage^® Cystic Fibrosis Expanded Screen for the 23 variants recommended by the American College of Obstetricians and Gynecologists (ACOG) for prenatal screening.

Initial test: Before proceeding to CFTR genetic testing for diagnosis of CF in an individual, clinicians often order a first line test. For instance, most states require clinicians to screen newborns using an immunoreactive Trypsinogen (IRT) assay. Labs may report this test with an appropriate method-specific code such as 83516 (Immunoassay for analyte other than infectious agent antibody or infectious agent antigen; qualitative or semiquantitative, multiple step method). Clinicians may also commonly order a chloride sweat test before proceeding to CFTR testing. Labs may bill for the sweat collection using 89230 (Sweat collection by iontophoresis) and the chloride test using 82438 (Chloride; other source)