How To Use CPT Code 81442

CPT 81442 describes the genomic sequence analysis panel used to evaluate patients with Noonan spectrum disorders (NSD). 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 81442?

CPT 81442 is used to describe the genomic sequence analysis panel performed to evaluate patients with Noonan spectrum disorders (NSD). This code specifically requires the sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1. The analysis panel helps in diagnosing and providing disease prognosis for NSDs, which are pediatric developmental disorders characterized by heart defects, distinctive craniofacial features, and skin and hair abnormalities.

2. Official Description

The official description of CPT code 81442 is: ‘Noonan spectrum disorders (eg, Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1.’

3. Procedure

1. The lab analyst collects a patient specimen, such as blood, for the genomic sequence analysis panel.
2. Using specialized equipment, such as a next-generation gene sequencer, the lab analyst performs the genomic sequence analysis of at least the 12 specified genes.
3. The instrument generates a read, which is a string of letters representing the nucleotide sequence of the patient’s genes.
4. The lab analyst compares the patient’s gene sequence to a reference genome to identify any variations or mutations associated with Noonan spectrum disorders.
5. The results of the analysis panel help in diagnosing and providing disease prognosis for patients with NSDs.

4. Qualifying circumstances

CPT 81442 is used for patients suspected of having Noonan spectrum disorders, including Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, and Noonan-like syndrome. The analysis panel must include the sequencing of at least 12 specific genes associated with these disorders. The test is typically ordered by clinicians to aid in diagnosis, provide disease prognosis, and guide treatment for patients with NSDs.

5. When to use CPT code 81442

CPT code 81442 should be used when performing a genomic sequence analysis panel for patients suspected of having Noonan spectrum disorders. It is important to ensure that the analysis includes the sequencing of at least 12 specific genes, as listed in the code description. This code should not be used for other genetic tests that do not meet the criteria specified in the code description.

6. Documentation requirements

To support a claim for CPT 81442, the documentation should include:

• Indication of the patient’s suspected Noonan spectrum disorder
• Details of the genomic sequence analysis panel performed, including the specific genes sequenced
• Date of the analysis
• Results of the analysis, including any variations or mutations identified
• Signature of the lab analyst performing the analysis

7. Billing guidelines

When billing for CPT 81442, ensure that the analysis panel includes the sequencing of at least 12 specified genes. It is important to follow the guidelines provided by payers regarding the billing of this code. Additionally, do not report CPT 81442 if other molecular pathology codes for the same genes are already reported. It is also important to note that some payers may separately reimburse for the collection of the patient specimen using a different code.

8. Historical information

CPT 81442 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 suspected of having Noonan syndrome undergoes a genomic sequence analysis panel that includes the sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1.
2. A child with cardio-facio-cutaneous syndrome undergoes a genomic sequence analysis panel to identify any variations or mutations in the specified genes.
3. A patient exhibiting symptoms of Costello syndrome undergoes a genomic sequence analysis panel to aid in diagnosis and provide disease prognosis.
4. A patient with LEOPARD syndrome undergoes a genomic sequence analysis panel to identify any genetic variations associated with the disorder.
5. A patient with Noonan-like syndrome undergoes a genomic sequence analysis panel to determine the underlying genetic cause of their condition.