Short Description

NGS genetic DNA test detecets for variant and mutation detection in CA2 gene for Osteopetrosis, autosomal recessive type 3

PreTest Information

Clinical History of Patient who is going for CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic DNA Test gene CA2

Detail Description

CA2 Gene Osteopetrosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Osteopetrosis, also known as marble bone disease, is a rare genetic disorder characterized by increased bone density and thickness. It is caused by mutations in genes responsible for the development and maintenance of bone tissue. One such gene is the CA2 gene, which is associated with autosomal recessive type 3 osteopetrosis.

What is Autosomal Recessive Type 3 Osteopetrosis?

Autosomal recessive type 3 osteopetrosis is a form of osteopetrosis caused by mutations in the CA2 gene. This gene provides instructions for making an enzyme called carbonic anhydrase II, which is important for the process of bone resorption. Mutations in this gene can lead to impaired bone resorption, resulting in increased bone density and thickness.

This condition is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are called carriers, and they do not typically experience symptoms of the condition.

Symptoms of Autosomal Recessive Type 3 Osteopetrosis

The symptoms of autosomal recessive type 3 osteopetrosis can vary widely depending on the severity of the condition. Some individuals may have no symptoms at all, while others may experience severe symptoms that can affect their quality of life. Common symptoms of this condition include:

• Delayed motor development
• Delayed tooth eruption
• Anemia
• Increased susceptibility to infections
• Visual and hearing impairment
• Bone fractures
• Abnormal curvature of the spine

The severity of these symptoms can vary depending on the age of onset and the extent of bone involvement. In some cases, the symptoms may not become apparent until adulthood.

Diagnosis of Autosomal Recessive Type 3 Osteopetrosis

Diagnosis of autosomal recessive type 3 osteopetrosis typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies such as X-rays, CT scans, and MRI scans can help identify the characteristic bone abnormalities associated with this condition. Genetic testing, such as NGS genetic DNA testing, can confirm the presence of mutations in the CA2 gene.

NGS genetic DNA testing is a powerful diagnostic tool that allows for the simultaneous analysis of multiple genes associated with osteopetrosis. This type of testing can provide a definitive diagnosis of the condition, as well as identify carriers of the mutated gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for autosomal recessive type 3 osteopetrosis in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or testing facility used.

Conclusion

Autosomal recessive type 3 osteopetrosis is a rare genetic disorder caused by mutations in the CA2 gene. This condition can cause a variety of symptoms, including delayed motor development, anemia, and bone fractures. Diagnosis of this condition typically involves a combination of clinical evaluation, imaging studies, and genetic testing, such as NGS genetic DNA testing. The cost of NGS genetic DNA testing for autosomal recessive type 3 osteopetrosis in India is typically around INR 20,000.

Early diagnosis and treatment of autosomal recessive type 3 osteopetrosis can help improve outcomes and quality of life for affected individuals. Genetic testing can help identify carriers of the mutated gene, which can be important information for family planning and reproductive decision-making.

If you suspect that you or a loved one may have autosomal recessive type 3 osteopetrosis, it is important to seek medical evaluation and genetic testing as soon as possible.