Short Description

NGS genetic DNA test detecets for variant and mutation detection in EXT1 gene for Exostoses, multiple, type 1

PreTest Information

Clinical History of Patient who is going for EXT1 Gene Exostoses, multiple, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EXT1 Gene Exostoses, multiple, type 1 NGS Genetic DNA Test gene EXT1

Detail Description

EXT1 Gene Exostoses, Multiple, Type 1 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Exostoses are benign bone tumors that grow on the surface of bones. They can develop in any bone in the body but are most commonly found in the long bones of the arms and legs. Multiple exostoses, also known as hereditary multiple exostoses (HME), is an inherited disorder that causes the growth of multiple exostoses on bones. It is caused by mutations in the EXT1 or EXT2 genes, which are responsible for producing proteins that help regulate bone growth.

Symptoms of Multiple Exostoses

The symptoms of multiple exostoses vary depending on the location and size of the tumors. Some people may have no symptoms at all, while others may experience:

• Bumps or lumps on bones
• Joint pain and stiffness
• Decreased range of motion in joints
• Nerve compression or damage
• Short stature

Diagnosis of Multiple Exostoses

Multiple exostoses can be diagnosed through a physical examination and imaging tests, such as X-rays, CT scans, or MRI scans. Genetic testing can also be used to confirm a diagnosis and identify the specific gene mutation causing the disorder.

EXT1 Gene Exostoses, Multiple, Type 1 NGS Genetic DNA Test

The EXT1 gene is responsible for producing a protein that helps regulate bone growth. Mutations in this gene can cause multiple exostoses, type 1. The NGS Genetic DNA Test is a diagnostic test that analyzes a patient's DNA to identify mutations in the EXT1 gene. The test is performed using a blood or saliva sample and can provide a definitive diagnosis of multiple exostoses caused by an EXT1 gene mutation.

Cost of EXT1 Gene Exostoses, Multiple, Type 1 NGS Genetic DNA Test

The cost of the EXT1 Gene Exostoses, Multiple, Type 1 NGS Genetic DNA Test in India is INR 20,000. This cost may vary depending on the location and facility where the test is performed.

Conclusion

If you or a loved one is experiencing symptoms of multiple exostoses, it is important to seek medical attention. A diagnosis can help guide treatment and management of the disorder. The EXT1 Gene Exostoses, Multiple, Type 1 NGS Genetic DNA Test can provide a definitive diagnosis for those with multiple exostoses caused by an EXT1 gene mutation. While the cost may vary, the information gained from this test can be invaluable in guiding treatment and improving quality of life.