Short Description

NGS genetic DNA test detecets for variant and mutation detection in ENPP1 gene for Hypophosphatemic rickets, autosomal recessive type 2

PreTest Information

Clinical History of Patient who is going for ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic DNA Test gene ENPP1

Detail Description

ENPP1 Gene Hypophosphatemic Rickets, Autosomal Recessive Type 2 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

ENPP1 gene hypophosphatemic rickets, autosomal recessive type 2, is a rare genetic disorder that affects the bones and teeth of affected individuals. It is caused by mutations in the ENPP1 gene, which is responsible for producing a protein that regulates the amount of phosphate in the body. When this protein is not functioning correctly, it can lead to low levels of phosphate in the blood, which can cause bone and teeth problems.

The symptoms of ENPP1 gene hypophosphatemic rickets, autosomal recessive type 2, can vary from person to person. Some individuals may have no symptoms at all, while others may experience severe bone and teeth problems. Common symptoms include:

• Bowed legs or knock knees
• Short stature
• Delayed growth and development
• Weak bones that fracture easily
• Dental problems, such as weak or discolored teeth
• Muscle weakness and pain

Diagnosing ENPP1 gene hypophosphatemic rickets, autosomal recessive type 2, can be challenging. It requires a combination of physical exams, blood tests, and imaging studies. Genetic testing is also available to confirm the diagnosis. NGS genetic DNA testing is the most advanced and accurate form of genetic testing available today, and it can identify mutations in the ENPP1 gene with high accuracy.

The cost of an NGS genetic DNA test for ENPP1 gene hypophosphatemic rickets, autosomal recessive type 2, is INR 20,000. This cost may vary depending on the laboratory and location where the test is performed.

If you or someone you know is experiencing symptoms of ENPP1 gene hypophosphatemic rickets, autosomal recessive type 2, it is important to seek medical attention. Early diagnosis and treatment can help prevent further bone and teeth damage and improve quality of life.

At DNA Labs India, we offer advanced NGS genetic DNA testing for ENPP1 gene hypophosphatemic rickets, autosomal recessive type 2, and other rare genetic disorders. Our team of experts uses state-of-the-art technology to provide accurate and reliable results. Contact us today to learn more about our testing services.