CPT® Code 81362

Official Description

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s)

Common Language Description

The CPT® Code 81362 pertains to the analysis of the HBB gene, specifically focusing on known familial variants associated with hemoglobin disorders. The HBB gene encodes the beta-globin protein, which is a crucial component of hemoglobin, the protein responsible for oxygen transport in red blood cells (RBCs). Hemoglobin is composed of two beta-globin subunits, produced by the HBB gene, and two alpha-globin subunits, produced by the HBA gene. The HBB gene is located on the short arm of chromosome 11 and plays a significant role in various hemoglobinopathies, including sickle cell anemia and beta thalassemia. Mutations in the HBB gene can lead to significant health issues. For instance, in sickle cell anemia, a specific mutation results in the substitution of the amino acid glutamic acid with valine at position 6 of the beta-globin chain, leading to the formation of hemoglobin S (HbS). This abnormal hemoglobin causes red blood cells to assume a sickle shape, which can obstruct blood flow and lead to pain and organ damage. Similarly, beta thalassemia is characterized by mutations that either reduce or completely halt the production of beta-globin, resulting in anemia and related complications. The analysis performed under CPT® Code 81362 is essential for identifying specific mutations within the HBB gene that may be inherited within families. This testing is particularly valuable for individuals with a family history of hemoglobin disorders, as it can aid in preconception screening and help determine carrier status. The testing process typically involves obtaining a blood sample, which is then analyzed using advanced techniques such as polymerase chain reaction (PCR) and sequencing methods. This code specifically addresses the identification of known familial variants, distinguishing it from other codes that cover common variants or full gene sequencing.

1. Indications

The HBB gene analysis performed under CPT® Code 81362 is indicated for several specific conditions and scenarios related to hemoglobin disorders. These include:

Known Familial Variants This test is utilized to identify specific mutations in the HBB gene that are known to be present within a family, particularly when there is a history of hemoglobin disorders.
Sickle Cell Anemia The analysis may be performed for individuals suspected of having sickle cell anemia, a condition caused by mutations in the HBB gene that lead to the production of hemoglobin S (HbS).
Beta Thalassemia Testing is indicated for patients with symptoms suggestive of beta thalassemia, which is characterized by reduced or absent production of beta-globin due to mutations in the HBB gene.
Hemoglobinopathy of Unknown Etiology The test can be used to evaluate patients with unexplained hemoglobin abnormalities, helping to identify underlying genetic causes.
Preconception Screening Individuals with a family history of hemoglobin disorders may undergo this test as part of preconception screening to determine their carrier status for known familial variants.

2. Procedure

The procedure for HBB gene analysis under CPT® Code 81362 involves several key steps, which are detailed as follows:

Step 1: Sample Collection A blood sample is obtained from the patient. This sample is critical for the subsequent genetic analysis and must be collected following standard phlebotomy procedures.
Step 2: DNA Extraction The collected blood sample undergoes a process of DNA extraction, where the genetic material is isolated from the blood cells. This step is essential to obtain pure DNA for analysis.
Step 3: Polymerase Chain Reaction (PCR) The extracted DNA is subjected to polymerase chain reaction (PCR), a technique that amplifies specific segments of the DNA, making it easier to analyze the regions of interest within the HBB gene.
Step 4: Sequencing or MLPA Following amplification, the DNA is analyzed using sequencing methods or Multiplex Ligation Probe Amplification (MLPA). These techniques allow for the identification of known familial variants by comparing the patient's DNA sequence to reference sequences.
Step 5: Interpretation of Results The results of the genetic analysis are interpreted by a qualified healthcare professional, who will assess the presence of known familial variants and provide a report detailing the findings.

3. Post-Procedure

After the HBB gene analysis is completed, the patient may receive counseling regarding the results, especially if a known familial variant is identified. This counseling is crucial for understanding the implications of the findings, including potential health risks and the importance of genetic counseling for family members. Additionally, if a mutation is detected, further testing may be recommended for family members to assess their carrier status. The patient may also be advised on any necessary follow-up care or monitoring based on the results of the test. Overall, the post-procedure phase emphasizes the importance of understanding genetic information and its impact on health management.

Short Descr	HBB GENE KNOWN FAM VARIANT
Medium Descr	HBB KNOWN FAMILIAL VARIANTS
Long Descr	HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s)
Status Code	Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days	XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC)	9 - Not Applicable
Multiple Procedures (51)	9 - Concept does not apply.
Bilateral Surgery (50)	9 - Concept does not apply.
Physician Supervisions	09 - Concept does not apply.
Assistant Surgeon (80, 82)	9 - Concept does not apply.
Co-Surgeons (62)	9 - Concept does not apply.
Team Surgery (66)	9 - Concept does not apply.
Diagnostic Imaging Family	99 - Concept Does Not Apply
CLIA Waived (QW)	No
APC Status Indicator	Service Paid under Fee Schedule or Payment System other than OPPS
Type of Service (TOS)	5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS)	none
MUE	1