Short Description

NGS genetic DNA test detecets for variant and mutation detection in TCIRG1 gene for Osteopetrosis, autosomal recessive type 1

PreTest Information

Clinical History of Patient who is going for TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic DNA Test gene TCIRG1

Detail Description

Understanding the TCIRG1 Gene and Osteopetrosis, Autosomal Recessive Type 1

Osteopetrosis, autosomal recessive type 1 is a rare genetic disorder that affects the bones. It is caused by mutations in the TCIRG1 gene, which provides instructions for making a protein that is important for the development and maintenance of bone tissue.

Symptoms of Osteopetrosis, Autosomal Recessive Type 1

The symptoms of osteopetrosis, autosomal recessive type 1 can vary from person to person. Some people may experience mild symptoms, while others may experience more severe symptoms. Common symptoms of this condition include:

• Increased bone density
• Frequent fractures
• Delayed tooth eruption
• Vision and hearing problems
• Enlarged spleen and liver

Diagnosing Osteopetrosis, Autosomal Recessive Type 1

Osteopetrosis, autosomal recessive type 1 is usually diagnosed in childhood. Doctors may suspect this condition if a child has a history of frequent fractures or other bone-related problems. A genetic test can confirm the diagnosis by identifying mutations in the TCIRG1 gene.

NGS Genetic DNA Test for Osteopetrosis, Autosomal Recessive Type 1

The NGS Genetic DNA Test is a non-invasive diagnostic test that can detect mutations in the TCIRG1 gene. This test is highly accurate and can provide a definitive diagnosis of osteopetrosis, autosomal recessive type 1. The cost of this test in India is INR 20,000.

Why Choose DNA Labs India?

DNA Labs India is a leading provider of genetic testing services in India. We offer a wide range of genetic tests, including the NGS Genetic DNA Test for osteopetrosis, autosomal recessive type 1. Our tests are conducted using state-of-the-art technology and are performed by highly trained and experienced professionals. We also provide confidential and accurate results, ensuring that our clients have peace of mind.

Conclusion

Osteopetrosis, autosomal recessive type 1 is a rare genetic disorder that affects the bones. It can cause a range of symptoms, including increased bone density, frequent fractures, and vision and hearing problems. If you suspect that you or a loved one may have this condition, it is important to get a diagnosis as soon as possible. The NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and reliable way to diagnose this condition. Contact us today to learn more about our genetic testing 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 TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic DNA Test