How To Use CPT Code 81434

CPT 81434 describes the genomic sequence analysis panel for hereditary retinal disorders. 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 81434?

CPT 81434 can be used to describe the genomic sequence analysis panel performed to evaluate a patient’s specimen for genetic sequences related to hereditary retinal disorders. This code requires the sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A.

2. Official Description

The official description of CPT code 81434 is: ‘Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A.’

3. Procedure

1. The lab analyst performs a genomic sequence analysis panel using a patient specimen, such as blood.
2. The analysis involves sequencing at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A.
3. A next-generation gene sequencer, an automated instrument, is used to determine the order of nucleotides in DNA.
4. The instrument generates a sequence, or read, which is compared to a reference genome of the same genes to identify any variants or mutations associated with hereditary retinal disorders.

4. Qualifying circumstances

CPT 81434 is used for patients who require evaluation for hereditary retinal disorders. This test may be ordered as part of genetic counseling or to aid in the diagnosis of conditions such as retinitis pigmentosa, Leber congenital amaurosis, and cone-rod dystrophy. The test analyzes genes to identify mutations that may cause these disorders. Retinal disorders can lead to blindness or severe visual impairment.

5. When to use CPT code 81434

CPT code 81434 should be used when performing a genomic sequence analysis panel for hereditary retinal disorders. It is important to ensure that the sequencing includes at least 15 specific genes, as listed in the code description. This code should not be used for single gene analysis, as it already includes sequencing of multiple genes.

6. Documentation requirements

To support a claim for CPT 81434, the following documentation is required:

• Patient’s indication for the test, such as genetic counseling or suspicion of hereditary retinal disorder
• Specific genes included in the analysis, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A
• Date of the analysis
• Results of the analysis, including any variants or mutations identified
• Signature of the lab analyst performing the analysis

7. Billing guidelines

When billing for CPT 81434, ensure that the analysis includes sequencing of at least 15 genes as specified in the code description. It is important to note that this code should not be reported in addition to codes for single gene analysis. Some payers may separately reimburse for specimen collection using a code such as 36415. Familiarize yourself with the specific billing guidelines of the payer to ensure accurate reimbursement.

8. Historical information

CPT 81434 was added to the Current Procedural Terminology system on January 1, 2016. There have been no updates or changes to the code since its addition.

9. Examples

1. A patient undergoes a genomic sequence analysis panel for suspected retinitis pigmentosa.
2. A genetic counselor orders a genomic sequence analysis panel to assess a patient’s risk for hereditary retinal disorders.
3. A patient with a family history of Leber congenital amaurosis undergoes a genomic sequence analysis panel to determine if they carry any disease-causing mutations.
4. A physician orders a genomic sequence analysis panel for a patient with symptoms of cone-rod dystrophy.
5. A newborn undergoes a genomic sequence analysis panel as part of a screening program for hereditary retinal disorders.
6. A patient with a known mutation in the RPGR gene undergoes a genomic sequence analysis panel to identify any additional mutations associated with retinal disorders.
7. A patient with a suspected genetic variant causing retinitis pigmentosa undergoes a genomic sequence analysis panel to confirm the diagnosis.
8. A geneticist orders a genomic sequence analysis panel to evaluate a patient’s risk for developing retinal disorders later in life.
9. A patient with a family history of hereditary retinal disorders undergoes a genomic sequence analysis panel to assess their risk.
10. A patient with symptoms of cone-rod dystrophy undergoes a genomic sequence analysis panel to identify any disease-causing mutations.