Short Description

NGS genetic DNA test detecets for variant and mutation detection in HBA2 gene for Thalassemia, alpha

PreTest Information

Clinical History of Patient who is going for HBA2 Gene Thalassemia, alpha NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HBA2 Gene Thalassemia, alpha NGS Genetic DNA Test gene HBA2

Detail Description

HBA2 Gene Thalassemia: Symptoms, Diagnosis, and Genetic Testing Cost

Thalassemia is a genetic blood disorder that affects the production of hemoglobin, the protein responsible for carrying oxygen in the blood. There are two main types of thalassemia: alpha and beta. Alpha thalassemia is caused by mutations in the HBA1 and HBA2 genes, which are responsible for producing alpha globin subunits of hemoglobin. In this blog, we will focus on the HBA2 gene and its role in alpha thalassemia.

Symptoms of Alpha Thalassemia

The severity of alpha thalassemia varies depending on the number of gene mutations. People with one or two mutations may not have any symptoms, while those with three or four mutations may experience:

• Anemia
• Fatigue
• Pale skin
• Shortness of breath
• Jaundice
• Bone deformities
• Enlarged spleen

Severe cases of alpha thalassemia can lead to stillbirth or death shortly after birth.

Diagnosis of Alpha Thalassemia

Alpha thalassemia can be diagnosed through a blood test that measures the amount of hemoglobin in the blood and the size of the red blood cells. Additional genetic testing may be necessary to determine the specific mutations in the HBA2 gene.

HBA2 Gene Thalassemia and Genetic Testing

The HBA2 gene is located on chromosome 16 and produces alpha globin subunits of hemoglobin. Mutations in this gene can result in alpha thalassemia, a genetic disorder that affects the production of hemoglobin.

NGS (next-generation sequencing) genetic testing can be used to identify mutations in the HBA2 gene. This type of testing is more comprehensive and can detect multiple mutations at once, making it a valuable tool for diagnosing thalassemia.

Cost of HBA2 Gene Thalassemia NGS Genetic Testing

The cost of NGS genetic testing for HBA2 gene thalassemia varies depending on the provider and location. In India, the cost of this test can range from INR 15,000 to INR 25,000. It is important to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the potential costs and benefits.

Conclusion

Alpha thalassemia is a genetic blood disorder that can cause anemia, fatigue, and other symptoms. The HBA2 gene plays a critical role in the production of hemoglobin and mutations in this gene can result in alpha thalassemia. NGS genetic testing can be used to diagnose thalassemia and identify specific mutations in the HBA2 gene. The cost of this testing in India can range from INR 15,000 to INR 25,000. If you or a loved one is experiencing symptoms of thalassemia, it is important to consult with a healthcare provider or genetic counselor to discuss potential testing and treatment options.

For more information on genetic testing and thalassemia, contact DNA Labs India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for HBA2 Gene Thalassemia, alpha NGS Genetic DNA Test