How To Use CPT Code 81443

CPT 81443 describes the procedure for genetic testing for severe inherited conditions using a genomic sequence analysis panel. This article will cover the description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, similar codes and billing examples.

1. What is CPT Code 81443?

CPT 81443 can be used to describe the procedure for genetic testing for severe inherited conditions. This code specifically refers to the use of a genomic sequence analysis panel, which involves sequencing at least 15 genes associated with these conditions. The test is performed using a patient specimen, such as blood, and utilizes specialized equipment like a next-generation gene sequencer to determine the order of nucleotides in DNA. The results are compared to a reference genome to identify any mutations or variants that may be associated with the inherited conditions.

2. Official Description

The official description of CPT code 81443 is: ‘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)’

3. Procedure

1. The lab analyst collects a patient specimen, such as blood, for genetic testing.
2. The genomic sequence analysis panel is performed, which involves sequencing at least 15 genes associated with severe inherited conditions.
3. A next-generation gene sequencer is used to determine the order of nucleotides in the DNA of the patient specimen.
4. The resulting sequence is compared to a reference genome to identify any mutations or variants in the genes being analyzed.
5. The lab analyst interprets the results and reports any findings related to the presence of mutations or variants associated with the severe inherited conditions.

4. Qualifying circumstances

CPT 81443 is used for genetic testing in patients suspected of having severe inherited conditions. These conditions can include cystic fibrosis, Ashkenazi Jewish-associated disorders (such as Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, and Tay-Sachs disease), beta hemoglobinopathies, phenylketonuria, and galactosemia. The test must include sequencing of at least 15 specific genes associated with these conditions, such as ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, and PAH.

5. When to use CPT code 81443

CPT code 81443 should be used when performing genetic testing for severe inherited conditions using a genomic sequence analysis panel. This code is appropriate when sequencing at least 15 genes associated with these conditions is included in the test. It is important to note that CPT code 81443 should not be reported if testing is performed only for Ashkenazi Jewish-associated disorders (use CPT code 81412) or if spinal muscular atrophy testing is performed separately (use CPT code 81329).

6. Documentation requirements

To support a claim for CPT code 81443, the following documentation is required:

• Patient information, including relevant medical history and symptoms
• Details of the genomic sequence analysis panel performed, including the specific genes sequenced
• Date and time of the test
• Results of the test, including any identified mutations or variants
• Interpretation of the results and their significance in relation to the suspected severe inherited conditions
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT code 81443, ensure that the test includes sequencing of at least 15 genes associated with severe inherited conditions. It is important to note that this code should not be reported in conjunction with CPT code 81412, which is specific to testing for Ashkenazi Jewish-associated disorders. Additionally, if spinal muscular atrophy testing is performed separately, use CPT code 81329. It is recommended to review payer guidelines and policies to ensure accurate and appropriate billing for CPT code 81443.

8. Historical information

CPT code 81443 was added to the Current Procedural Terminology system on January 1, 2019. There have been no updates or changes to the code since its addition.

9. Examples

1. A patient undergoes genetic testing using a genomic sequence analysis panel to determine if they carry any mutations or variants associated with cystic fibrosis.
2. A newborn is tested for Ashkenazi Jewish-associated disorders using a genomic sequence analysis panel that includes sequencing of specific genes associated with these conditions.
3. A couple planning to have children undergoes genetic testing to assess their risk of passing on beta hemoglobinopathies.
4. A newborn is screened for phenylketonuria using a genomic sequence analysis panel that includes sequencing of genes associated with this condition.
5. A patient with suspected galactosemia undergoes genetic testing to confirm the presence of mutations in genes associated with this condition.