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EXT2 Gene Exostoses, multiple, type 2 NGS Genetic DNA Test Details
EXT2 Gene Exostoses, multiple, type 2 NGS Genetic DNA Test
Exostoses, multiple, type 2 (EXT2) is a genetic disorder that causes the formation of bony protrusions on the surface of bones, particularly in the hands, feet, and knees. This condition is caused by mutations in the EXT2 gene, which provides instructions for making a protein that is important for the normal development and maintenance of bones and cartilage.
Symptoms of EXT2 Gene Exostoses, multiple, type 2
The symptoms of EXT2 Gene Exostoses, multiple, type 2 can vary greatly from person to person. Some people may experience no symptoms at all, while others may have severe symptoms that affect their daily lives. The most common symptoms of EXT2 Gene Exostoses, multiple, type 2 include:
- Bony protrusions on the surface of bones, particularly in the hands, feet, and knees
- Joint pain and stiffness
- Reduced range of motion in affected joints
- Deformities of the hands and feet
- Short stature
Diagnosis of EXT2 Gene Exostoses, multiple, type 2
The diagnosis of EXT2 Gene Exostoses, multiple, type 2 is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. A doctor may perform a physical examination to look for bony protrusions on the surface of bones, particularly in the hands, feet, and knees. Imaging studies, such as X-rays or MRI scans, may also be used to confirm the diagnosis and evaluate the extent of the bone growths. Genetic testing can be used to identify mutations in the EXT2 gene, which can confirm the diagnosis and provide information about the inheritance pattern of the condition.
NGS Genetic DNA Test for EXT2 Gene Exostoses, multiple, type 2
Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can be used to identify mutations in the EXT2 gene. This type of genetic testing can provide a comprehensive analysis of the entire gene, allowing for the detection of all possible mutations that may be causing the condition. NGS genetic DNA testing for EXT2 Gene Exostoses, multiple, type 2 is a highly accurate and sensitive method for diagnosing this condition.
Cost of NGS Genetic DNA Test for EXT2 Gene Exostoses, multiple, type 2 in India
The cost of NGS genetic DNA testing for EXT2 Gene Exostoses, multiple, type 2 in India varies depending on the testing laboratory and the specific testing protocol used. However, the average cost of this test in India is around INR 20,000.
Conclusion
EXT2 Gene Exostoses, multiple, type 2 is a genetic disorder that causes bony protrusions on the surface of bones, particularly in the hands, feet, and knees. Diagnosis of this condition typically involves a combination of clinical evaluation, imaging studies, and genetic testing. NGS genetic DNA testing is a highly accurate and sensitive method for diagnosing EXT2 Gene Exostoses, multiple, type 2, and the cost of this test in India is around INR 20,000.
If you suspect that you or a loved one may have EXT2 Gene Exostoses, multiple, type 2, it is important to speak with a healthcare professional and consider genetic testing to confirm the diagnosis.
