CPT® Code 81269

Official Description

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants

Common Language Description

The CPT® Code 81269 pertains to molecular genetic testing specifically aimed at analyzing the HBA1 and HBA2 genes, which are crucial for the production of alpha globin chains in hemoglobin. These genes are located on chromosome 16 within the alpha globin locus and are associated with various hemoglobin disorders, including alpha thalassemia, Hb Bart hydrops fetalis syndrome, and HbH disease. The testing focuses on identifying duplication and deletion variants of these genes, which can lead to significant clinical implications. Alpha thalassemia is the most prevalent variant globally, characterized by a reduction or absence of alpha globin chain production due to deletions affecting the HBA1 and HBA2 genes. Various specific deletions, such as SEA, THAI, FIL, MED, and alpha20.5, involve the loss of both HBA1 and HBA2 from the same chromosome, while other variants like alpha3.7 and alpha4.2 result in the deletion of a single alpha gene. The Constant Spring (HbCS) variant is notable for a mutation that extends 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 the associated hemoglobin disorders. Carriers, who inherit a mutation from only one parent, may not exhibit symptoms but can pass the mutation to their offspring. The clinical significance of these disorders varies, with severe forms like Hb Bart leading to hydrops fetalis syndrome and perinatal death, while milder forms may present as microcytic anemia. Molecular genetic testing is essential for diagnosing these conditions, particularly in 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 genetic conditions.

1. Indications

The molecular genetic testing for HBA1 and HBA2 gene analysis is indicated in several clinical scenarios, particularly for individuals who may be affected by hemoglobin disorders. The following conditions warrant testing:

Symptoms of Hemoglobin Disorders Individuals presenting with clinical symptoms associated with hemoglobinopathies, such as anemia or abnormal hemoglobin levels, should undergo testing to identify potential genetic causes.
Fetal Loss with Evidence of Hydrops Fetalis Syndrome Women who have experienced fetal loss accompanied by signs of hydrops fetalis syndrome may require testing to determine if alpha thalassemia or related disorders are involved.
Family History of Hemoglobin Disorders Individuals with a known family history of alpha thalassemia or other hemoglobin disorders should be tested to assess their risk of carrying mutations in the HBA1 or HBA2 genes.

2. Procedure

The procedure for gene analysis of the HBA1 and HBA2 genes involves several key steps to ensure accurate identification of duplication and deletion variants. The following procedural steps are typically followed:

Sample Collection A blood sample is collected from the patient, which serves as the source of DNA for the genetic analysis. Proper collection techniques and handling are essential to maintain the integrity of the sample.
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.
Gene Analysis The extracted DNA undergoes molecular genetic testing specifically targeting the HBA1 and HBA2 genes. This analysis focuses on identifying any duplication or deletion variants that may be present, which are critical for diagnosing associated hemoglobin disorders.
Data Interpretation The results of the gene analysis are interpreted by qualified laboratory personnel. They assess the presence of any identified variants and determine their clinical significance in relation to the patient's symptoms and family history.
Reporting Results A comprehensive report is generated, detailing the findings of the gene analysis. This report is then provided to the healthcare provider for further evaluation and management of the patient.

3. Post-Procedure

After the gene analysis procedure, patients may not require any specific post-procedure care, as the testing is non-invasive and involves only a blood draw. However, it is essential for healthcare providers to discuss the results with the patient once they are available. Patients may need counseling regarding the implications of the findings, especially if a mutation is identified that could affect their health or that of their family members. Additionally, if a diagnosis of a hemoglobin disorder is confirmed, further management and treatment options should be discussed, including potential monitoring and interventions based on the specific disorder identified.

Short Descr	HBA1/HBA2 GENE DUP/DEL VRNTS
Medium Descr	HBA1/HBA2 GENE ANALYSIS DUP/DEL VARIANTS
Long Descr	HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants
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.
26	Professional component: certain procedures are a combination of a physician or other qualified health care professional component and a technical component. when the physician or other qualified health care professional component is reported separately, the service may be identified by adding modifier 26 to the usual procedure number.
GZ	Item or service expected to be denied as not reasonable and necessary