Pathology/Lab Coding Alert

Question: I see that CPT^® 2019 adds a new code for genetic testing for severe inherited conditions. Are there any instructions about how to distinguish this code from existing codes for severe inherited conditions?

Mississippi Subscriber

Answer: The code you refer to is 81443 (Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH)).

You are correct that CPT^® already contains other codes for severe inherited conditions, including a code for an Ashkenazi Jewish-associated disorder panel that interrogates many of the genes listed in the new 81443 code (81412, Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1).

Text notes to the rescue: To make sure you’re aware of the other codes and report them instead of 81443, when appropriate, CPT® 2019 includes several text notes following code 81443:

• If spinal muscular atrophy testing is performed separately, use 81401
• If testing is performed only for Ashkenazi Jewish-associated disorders, use 81412
• If FMR1 (expanded allele) testing is performed separately, use 81243
• If hemoglobin A testing is performed separately, use 81257
• Do not report 81443 in conjunction with 81412.