Short Description

NGS genetic DNA test detecets for variant and mutation detection in SBDS gene for Aplastic anemia, SBDS related

PreTest Information

Clinical History of Patient who is going for SBDS Gene Aplastic anemia, SBDS related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Aplastic anemia, SBDS related

Detail Description

SBDS Gene and Aplastic Anemia: Symptoms, Diagnosis, and SBDS-Related NGS Genetic DNA Test Cost in India

Aplastic anemia is a rare blood disorder that occurs when the body fails to produce enough blood cells. The condition can be caused by a variety of factors, including genetic mutations. One such mutation is found in the SBDS gene, which is responsible for producing a protein that helps regulate the production of blood cells. Mutations in this gene can lead to a condition known as Shwachman-Diamond syndrome (SDS), which is characterized by a range of symptoms, including aplastic anemia.

Symptoms of Aplastic Anemia and SDS

The symptoms of aplastic anemia and SDS can vary depending on the severity of the condition. In general, individuals with these conditions may experience:

• Fatigue
• Shortness of breath
• Weakness
• Pale skin
• Frequent infections
• Bleeding and bruising
• Growth delay in children
• Abnormal bone development
• Increased risk of leukemia

If you or a loved one is experiencing any of these symptoms, it is important to seek medical attention right away.

Diagnosing Aplastic Anemia and SDS

Diagnosing aplastic anemia and SDS typically involves a combination of medical history, physical examination, blood tests, and bone marrow biopsy. In some cases, genetic testing may also be recommended to identify any underlying genetic mutations, such as those in the SBDS gene.

SBDS-Related NGS Genetic DNA Test Cost in India

NGS (next-generation sequencing) is a powerful tool that can be used to identify genetic mutations, including those in the SBDS gene. This type of testing can help diagnose SDS and other genetic disorders, as well as provide insight into the potential risks of passing on these mutations to future generations.

The cost of an SBDS-related NGS genetic DNA test in India can vary depending on the specific laboratory and testing method used. However, on average, this type of test can cost around INR 20,000.

Conclusion

Aplastic anemia and SDS can be serious and potentially life-threatening conditions. If you or a loved one is experiencing any symptoms of these conditions, it is important to seek medical attention right away. Additionally, genetic testing can provide valuable information about underlying genetic mutations, potential risks, and treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including SBDS-related NGS genetic DNA testing. Our team of experts is committed to providing accurate, reliable, and affordable testing services to individuals and families across 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 SBDS Gene Aplastic anemia, SBDS related NGS Genetic DNA Test