Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC6L2 gene for Bone marrow failure syndrome type 2

PreTest Information

Clinical History of Patient who is going for ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic DNA Test gene ERCC6L2

Detail Description

ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Bone marrow failure syndrome is a rare and life-threatening condition that affects the production of blood cells in the bone marrow. One of the genetic causes of this syndrome is the ERCC6L2 gene mutation, which is known to cause bone marrow failure syndrome type 2. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost in India for the ERCC6L2 gene mutation.

Symptoms of Bone Marrow Failure Syndrome Type 2

Bone marrow failure syndrome type 2 is a genetic disorder that affects the production of blood cells in the bone marrow. The symptoms of this condition may vary depending on the severity of the disease. Some of the common symptoms of bone marrow failure syndrome type 2 include:

• Fatigue
• Shortness of breath
• Pale skin
• Easy bruising and bleeding
• Frequent infections
• Loss of appetite
• Weight loss
• Slow growth and development

If you or your child are experiencing any of these symptoms, it is important to consult with a doctor immediately.

Diagnosis of Bone Marrow Failure Syndrome Type 2

The diagnosis of bone marrow failure syndrome type 2 is usually made through a combination of clinical evaluation, blood tests, and genetic testing. In order to diagnose this condition, doctors will typically perform a complete blood count (CBC) to evaluate the levels of different blood cells in the body. If the results of the CBC suggest a bone marrow disorder, a bone marrow biopsy may be performed to confirm the diagnosis.

Genetic testing is also an important part of the diagnosis process for bone marrow failure syndrome type 2. Specifically, doctors will look for mutations in the ERCC6L2 gene, which is known to cause this condition.

NGS Genetic DNA Test Cost in India for ERCC6L2 Gene Mutation

The NGS genetic DNA test is a type of genetic testing that can be used to detect mutations in the ERCC6L2 gene. This test is typically performed using a blood sample or a saliva sample, and it can provide important information about a person's risk for bone marrow failure syndrome type 2.

The cost of the NGS genetic DNA test in India for the ERCC6L2 gene mutation can vary depending on the laboratory and the specific testing method used. On average, the cost of this test is around INR 20,000.

Conclusion

Bone marrow failure syndrome type 2 is a rare and serious genetic condition that can cause a range of symptoms, including fatigue, shortness of breath, and easy bruising and bleeding. If you or your child are experiencing any of these symptoms, it is important to consult with a doctor immediately. Genetic testing, including the NGS genetic DNA test, can be an important part of the diagnosis process for bone marrow failure syndrome type 2. The cost of this test in India is typically around INR 20,000.

At DNA Labs India, we offer a range of genetic testing services, including the NGS genetic DNA test for the ERCC6L2 gene mutation. Our team of experts is committed to providing accurate and reliable results to help you make informed decisions about your health. Contact us today to learn more about our services.