Pathology/Lab Coding Alert

Reader Question:

Detail Genes for Colon Cancer Test

Question: Our lab performed a Buccal Colaris genetic test for a patient based on a family history of colon cancer. Is this a CRC screening test, and how should we code it?

Minnesota Subscriber

Answer: No, Colaris®, which is test by Myriad Genetics, Inc., is not a screening test for CRC.

Instead, tests such as Colaris® are genetic tests to assess a person’s risk of developing hereditary CRC, such as Lynch Syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC), familial adenomatous polyposis (FAP), and MYH-associated polyposis (MAP).

The tests typically use a blood specimen or buccal (oral) swab specimen and involve DNA sequencing analysis of several genes, such as MLH1, MSH2, MSH6, and PMS2.

Correct coding for the tests involve selecting the codes for the specific gene mutations interrogated, such as the following codes:

  • 81292 (MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis)
  • 81288 (… promotor methylation analysis)
  • 81293 (... known familial variants)
  • 81294 (... duplication/deletion variants)
  • 81295 (MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis)
  • 81296 (... known familial variants)
  • 81297 (... duplication/deletion variants)
  • 81298 (MSH6 (mutS homolog 6 E. coli) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis full sequence analysis)
  • 81299 (… known familial variants)
  • 81300 (… duplication/deletion variants)
  • 81301 (Microsatellite instability analysis (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) of markers for mismatch repair deficiency (eg BAT25, BAT26) includes comparison of neoplastic and normal tissue, if performed)
  • 81317 (PMS2 (postmeiotic segregation increased 2 S. cerevisiae) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis)
  • 81318 (… known familial variants)
  • 81319 (... duplication/deletion variants).