CPT® Code 81361

Official Description

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE)

Common Language Description

The CPT® Code 81361 pertains to the analysis of the HBB gene, which encodes the beta-globin subunit of hemoglobin, a critical protein found in red blood cells (RBCs). This gene analysis is particularly relevant for identifying common variants associated with various hemoglobin disorders, including sickle cell anemia, beta thalassemia, and other hemoglobinopathies. The HBB gene is located on the short arm of chromosome 11 and plays a vital role in the formation of hemoglobin, which is composed of two beta-globin and two alpha-globin subunits. These subunits are essential for binding oxygen, which is then transported throughout the body by RBCs. 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 production of hemoglobin S (HbS). This abnormal hemoglobin causes RBCs to assume a sickle shape, which can obstruct blood flow and lead to various complications. Similarly, beta thalassemia is characterized by mutations that either reduce or completely halt the production of beta-globin, resulting in anemia and related symptoms due to insufficient oxygen delivery to tissues. The HBB gene analysis can be performed using techniques such as polymerase chain reaction (PCR) and sequencing, which allow for the detection of these mutations. The test is crucial for diagnosing hemoglobin disorders, determining carrier status in individuals with a family history of such conditions, and guiding clinical management. The code 81361 specifically reports testing for common variants like HbS, HbC, and HbE, which are prevalent in certain populations and can lead to similar clinical manifestations due to their impact on hemoglobin function.

1. Indications

The HBB gene analysis, represented by CPT® Code 81361, is indicated for several specific conditions and scenarios related to hemoglobin disorders. These include:

Sickle Cell Anemia - This condition arises from mutations in the HBB gene that lead to the production of hemoglobin S (HbS), resulting in distorted red blood cell shapes and various health complications.
Beta Thalassemia - Characterized by mutations that affect beta-globin production, this condition can lead to anemia and related symptoms due to insufficient hemoglobin levels.
Hemoglobinopathies - This term encompasses a range of disorders caused by abnormalities in hemoglobin, including methemoglobinemia beta-globin type, which can result from specific mutations in the HBB gene.
Carrier Status Screening - The test may be utilized as a preconception screening tool to determine if individuals are carriers of hemoglobin disorders, particularly when there is a family history of such conditions.
Evaluation of Abnormal Hemoglobin - The analysis can help identify specific beta-thalassemia mutations or evaluate for abnormal hemoglobin in cases where the etiology is unknown.

2. Procedure

The procedure for HBB gene analysis involves several key steps to ensure accurate testing and results. These steps include:

Sample Collection - A blood sample is obtained from the patient, which serves as the source of genetic material for testing. This sample collection is performed as a separate procedure and is essential for the subsequent analysis.
DNA Extraction - Once the blood sample is collected, the DNA is extracted from the white blood cells present in the sample. This step is crucial as it isolates the genetic material needed for analysis.
Polymerase Chain Reaction (PCR) - The extracted DNA undergoes PCR, a technique that amplifies specific segments of the HBB gene. This amplification is necessary to generate sufficient quantities of DNA for further analysis.
Sequencing or Multiplex Ligation Probe Amplification (MLPA) - Following PCR, the amplified DNA is subjected to sequencing or MLPA. Sequencing allows for the detailed examination of the HBB gene to identify any mutations or variants, while MLPA can detect duplications or deletions within the gene.

3. Post-Procedure

After the HBB gene analysis is completed, the results are interpreted by a qualified healthcare professional. The findings can provide critical information regarding the presence of specific hemoglobin variants or mutations. Patients may receive counseling based on the results, especially if they are found to be carriers of hemoglobin disorders or if a diagnosis is confirmed. Follow-up care may include further testing for family members, management of any identified conditions, and discussions regarding reproductive options for carriers. It is important for patients to understand the implications of their test results and to have access to genetic counseling if needed.

Short Descr	HBB GENE COM VARIANTS
Medium Descr	HBB COMMON VARIANTS
Long Descr	HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE)
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

59	Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
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.
GW	Service not related to the hospice patient's terminal condition
GZ	Item or service expected to be denied as not reasonable and necessary
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service