Short Description

NGS genetic DNA test detecets for variant and mutation detection in SBDS gene for Shwachman-Diamond syndrome

PreTest Information

Clinical History of Patient who is going for SBDS Gene Shwachman-Diamond syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SBDS Gene Shwachman-Diamond syndrome NGS Genetic DNA Test gene SBDS

Detail Description

SBDS Gene and Shwachman-Diamond Syndrome: Understanding the NGS Genetic DNA Test Cost and Diagnosis

Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that affects various systems in the body, including the digestive, skeletal, and blood systems. The condition is caused by a mutation in the SBDS gene, which is responsible for producing a protein that plays a vital role in the normal development of various cells in the body.

SDS is a hereditary condition, which means that it can be passed down from parents to their children. The symptoms of the condition can vary widely, making it difficult to diagnose. Some of the common symptoms of SDS include:

• Failure to thrive in infants
• Chronic diarrhea
• Pancreatic insufficiency
• Bone abnormalities
• Low white blood cell count
• An increased risk of leukemia

Given the complex nature of SDS, it is important to diagnose the condition as early as possible. One of the most effective ways to diagnose SDS is through a genetic test that looks for mutations in the SBDS gene. This test is known as an NGS (Next-Generation Sequencing) Genetic DNA Test.

Understanding the NGS Genetic DNA Test Cost

The cost of an NGS Genetic DNA Test for SDS can vary depending on the testing facility and the country in which the test is performed. In India, the cost of an NGS Genetic DNA Test for SDS is generally around INR 20,000. It is important to note that this cost may not include additional fees for pre-test counseling or post-test follow-up.

While the cost of an NGS Genetic DNA Test may seem high, it is important to consider the potential benefits of early diagnosis. Early diagnosis can lead to earlier treatment, which can improve the quality of life for individuals with SDS and potentially prevent serious complications.

The Diagnosis of SDS

Diagnosing SDS can be challenging, as the symptoms of the condition can vary widely and may be similar to those of other conditions. In addition to a genetic test, a diagnosis of SDS may also involve:

• A physical exam to check for physical abnormalities
• Blood tests to check for abnormalities in blood cell counts or pancreatic function
• X-rays or other imaging tests to check for bone abnormalities
• A biopsy of the bone marrow or other tissues

If you or a loved one is experiencing symptoms of SDS, it is important to speak with a healthcare provider as soon as possible. A healthcare provider can help determine the underlying cause of the symptoms and recommend appropriate testing or treatment.

Conclusion

SDS is a rare genetic disorder that can have a significant impact on the health and well-being of affected individuals. Early diagnosis through an NGS Genetic DNA Test can help identify the underlying cause of the condition and lead to earlier treatment. While the cost of an NGS Genetic DNA Test may seem high, it is important to consider the potential benefits of early diagnosis and treatment.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS Genetic DNA Tests for SDS. Our team of experienced healthcare professionals is dedicated to providing accurate, reliable testing services to help our clients make informed decisions about their health. Contact us today to learn more about our services.

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 Shwachman-Diamond syndrome NGS Genetic DNA Test