CPT® Code 81257

Official Description

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, Constant Spring)

Common Language Description

Molecular genetic testing, specifically for the HBA1 and HBA2 genes, is a critical procedure aimed at identifying mutations associated with various hemoglobin disorders. These genes are located on chromosome 16 within the alpha globin locus and play a vital role in the production of hemoglobin, the protein responsible for oxygen transport in the blood. The most prevalent condition linked to mutations in these genes is alpha thalassemia, which arises from the absence or reduction of alpha globin chain production due to deletions affecting the alpha A genes, including both HBA1 and HBA2. There are several known variants of alpha thalassemia, including Southeast Asian, Thai, Filipino, Mediterranean, and specific deletions such as alpha3.7, alpha4.2, and alpha20.5, as well as the Constant Spring variant, which is characterized by a mutation that elongates the protein structure by 31 amino acids. The inheritance pattern of these disorders is autosomal recessive, meaning that individuals must inherit mutations from both parents to develop significant hemoglobin disorders. Those who inherit a mutation from only one parent become carriers of the disease. Clinically significant forms of alpha thalassemia include Hb Bart, which can lead to hydrops fetalis syndrome and is associated with severe complications such as fetal edema and anemia, and Hemoglobin H disease, which results from the loss of three alpha genes and presents with moderate anemia and splenomegaly. Additionally, carrier states may exhibit mild anemia, often misdiagnosed as iron deficiency anemia, while silent carriers may show no symptoms or only very mild changes in blood parameters. Molecular genetic testing is particularly indicated for individuals exhibiting symptoms of hemoglobin disorders, women with a history of fetal loss linked to hydrops fetalis syndrome, or those with a family history of these conditions.

1. Indications

The molecular genetic testing for HBA1 and HBA2 gene analysis is indicated for the following conditions and scenarios:

Symptoms of Hemoglobin Disorders Individuals presenting with clinical symptoms associated with hemoglobin disorders may require testing to identify specific mutations.
Fetal Loss with Evidence of Hydrops Fetalis Syndrome Women who have experienced fetal loss accompanied by hydrops fetalis syndrome should undergo testing to determine if genetic factors are involved.
Family History of Hemoglobin Disorders Individuals with a known family history of hemoglobin disorders may be tested to assess their risk and potential carrier status.

2. Procedure

The procedure for HBA1 and HBA2 gene analysis involves several key steps to ensure accurate identification of common deletions or variants:

Sample Collection A blood sample is collected from the patient, which serves as the source of DNA for the genetic analysis. Proper collection techniques must be followed to ensure sample integrity.
DNA Extraction The DNA is extracted from the collected blood sample using standardized laboratory techniques. This step is crucial for isolating the genetic material needed for analysis.
Genetic Analysis The extracted DNA undergoes molecular genetic testing to identify specific mutations in the HBA1 and HBA2 genes. This may involve techniques such as polymerase chain reaction (PCR) and sequencing to detect common deletions or variants.
Data Interpretation The results of the genetic analysis are interpreted by qualified laboratory personnel. They assess the presence of known mutations and variants associated with alpha thalassemia and other hemoglobin disorders.
Reporting Results A comprehensive report is generated, detailing the findings of the genetic analysis. This report is then provided to the healthcare provider for further clinical decision-making.

3. Post-Procedure

After the completion of the HBA1 and HBA2 gene analysis, the following post-procedure considerations are important:

Patients may receive counseling regarding the implications of their test results, especially if mutations are identified. This counseling can help in understanding the potential health impacts, the risk of passing on genetic conditions to offspring, and the importance of follow-up testing or monitoring. Additionally, healthcare providers may discuss management options for any identified hemoglobin disorders, including potential treatments or lifestyle adjustments. It is also essential to consider the emotional and psychological aspects of receiving genetic test results, and support services may be recommended as needed.

Short Descr	HBA1/HBA2 GENE
Medium Descr	HBA1/HBA2 GENE ANALYSIS COMMON DELETIONS/VARIANT
Long Descr	HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, Constant Spring)
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)	T1H - Lab tests - other (non-Medicare fee schedule)
MUE	1
CCS Clinical Classification	234 - Pathology

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.
GY	Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit
GA	Waiver of liability statement issued as required by payer policy, individual case
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.
91	Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient.
GZ	Item or service expected to be denied as not reasonable and necessary
Q1	Routine clinical service provided in a clinical research study that is in an approved clinical research study