Short Description

NGS genetic DNA test detecets for variant and mutation detection in SNX10 gene for Osteopetrosis of infancy, malignant

PreTest Information

Clinical History of Patient who is going for SNX10 Gene Osteopetrosis of infancy, malignant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SNX10 Gene Osteopetrosis of infancy, malignant NGS Genetic DNA Test gene SNX10

Detail Description

Understanding SNX10 Gene Osteopetrosis of Infancy and Malignant NGS Genetic DNA Test Cost in India

Osteopetrosis is a rare genetic disorder that affects bone development and can lead to brittle bones, bone fractures, and other complications. SNX10 Gene Osteopetrosis of Infancy is a specific type of osteopetrosis that is caused by mutations in the SNX10 gene. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Symptoms of SNX10 Gene Osteopetrosis of Infancy

The symptoms of SNX10 Gene Osteopetrosis of Infancy can vary depending on the severity of the condition. Some common symptoms include:

• Brittle bones that are prone to fractures
• Delayed growth and development
• Anemia (low red blood cell count)
• Visual and hearing impairments
• Infections due to a weakened immune system

Diagnosis of SNX10 Gene Osteopetrosis of Infancy

Diagnosis of SNX10 Gene Osteopetrosis of Infancy can be made through genetic testing. This involves analyzing a person's DNA to identify mutations in the SNX10 gene. Other tests, such as X-rays and bone scans, may also be used to confirm the diagnosis and assess the severity of the condition.

Malignant NGS Genetic DNA Test Cost in India

NGS (Next-Generation Sequencing) genetic testing is a powerful tool for diagnosing genetic disorders, including SNX10 Gene Osteopetrosis of Infancy. This type of testing involves sequencing a person's entire genome to identify mutations that may be causing their symptoms.

The cost of NGS genetic testing in India can vary depending on the specific test being performed and the laboratory conducting the testing. On average, the cost of NGS genetic testing for SNX10 Gene Osteopetrosis of Infancy is around INR 20,000.

Conclusion

SNX10 Gene Osteopetrosis of Infancy is a rare genetic disorder that can cause serious complications, including brittle bones, delayed growth, and weakened immune system. Genetic testing, such as NGS testing, can help diagnose this condition and provide information that can guide treatment and management. If you or a loved one is experiencing symptoms of SNX10 Gene Osteopetrosis of Infancy, it is important to speak with a healthcare professional to determine the best course of action.