CPT® Code 81363

Official Description

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s)

Common Language Description

The CPT® Code 81363 pertains to the analysis of the HBB gene, specifically focusing on the identification of duplication and deletion variants. The HBB gene is crucial as it encodes the beta-globin subunit of hemoglobin, which is a vital protein found in red blood cells (RBCs). Hemoglobin itself is composed of two beta-globin and two alpha-globin subunits, with the alpha-globin subunits encoded by the HBA gene. Each of these protein subunits is associated with iron-containing heme molecules that are essential for oxygen transport throughout the body. The HBB gene is located on the short arm of chromosome 11 at position 15.4. Mutations in the HBB gene can lead to various hemoglobin disorders, including sickle cell anemia and beta thalassemia. 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 adopt a sickle shape, which can obstruct blood flow and lead to various complications. Beta thalassemia is characterized by mutations that either reduce or completely halt the production of beta-globin, resulting in a shortage of mature red blood cells and subsequent health issues such as poor growth and organ damage. Additionally, the HBB gene is implicated in other hemoglobinopathies, including methemoglobinemia, where the normal ferrous iron in hemoglobin is replaced by ferric iron, impairing oxygen binding. The analysis of the HBB gene through this specific CPT® code is essential for identifying specific mutations associated with these disorders, evaluating abnormal hemoglobin types, and conducting preconception screenings for carrier status in families with a history of hemoglobin disorders. The testing is performed on a blood sample using advanced techniques such as polymerase chain reaction (PCR) and sequencing methods.

1. Indications

The HBB gene analysis using CPT® Code 81363 is indicated for several specific conditions and scenarios related to hemoglobin disorders. These include:

Sickle Cell Anemia - This condition is characterized by the presence of hemoglobin S (HbS) due to a mutation in the HBB gene, leading to distorted red blood cell shapes and various health complications.
Beta Thalassemia - This disorder results from mutations that affect the production of beta-globin, leading to anemia and other related health issues.
Hemoglobinopathies - The test is used to evaluate abnormal hemoglobin types in patients with undiagnosed hemoglobin disorders.
Carrier Screening - The analysis may be performed as a preconception screening to determine carrier status in individuals with a family history of hemoglobin disorders.

2. Procedure

The procedure for HBB gene analysis under CPT® Code 81363 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 to prepare for analysis.
Step 3: Polymerase Chain Reaction (PCR) - The extracted DNA is subjected to polymerase chain reaction (PCR) to amplify specific regions of the HBB gene. This step is essential for ensuring that there is enough DNA for detailed analysis.
Step 4: Sequencing or Multiplex Ligation Probe Amplification (MLPA) - Following amplification, the DNA is analyzed using sequencing techniques or multiplex ligation probe amplification (MLPA) to identify any duplication or deletion variants in the HBB gene.
Step 5: Data Interpretation - The results of the sequencing or MLPA are interpreted by qualified laboratory personnel to identify specific genetic variants associated with hemoglobin disorders.

3. Post-Procedure

After the HBB gene analysis is completed, the results are compiled into a report that details any identified duplication or deletion variants. This report is then provided to the healthcare provider for further evaluation and management of the patient’s condition. Depending on the findings, additional counseling or testing may be recommended for the patient and their family members, especially in cases where carrier status or hereditary conditions are involved. It is important for healthcare providers to discuss the implications of the test results with patients, including potential treatment options and the significance of the findings in the context of family planning and health management.

Short Descr	HBB GENE DUP/DEL VARIANTS
Medium Descr	HBB DUPLICATION/DELETION VARIANTS
Long Descr	HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion 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

90	Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.