Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLCN5 gene for Hypophosphatemic rickets

PreTest Information

Clinical History of Patient who is going for CLCN5 Gene Hypophosphatemic rickets NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN5 Gene Hypophosphatemic rickets NGS Genetic DNA Test gene CLCN5

Detail Description

CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

CLCN5 gene hypophosphatemic rickets is a rare genetic disorder that affects the bones and teeth. This disorder is caused by mutations in the CLCN5 gene, which provides instructions for making a protein that helps regulate the levels of phosphate in the body. Hypophosphatemic rickets is characterized by low levels of phosphate in the blood, which leads to weak and brittle bones.

Symptoms

The symptoms of CLCN5 gene hypophosphatemic rickets may vary from person to person. Some common symptoms include:

• Bowed legs and arms
• Knee pain and difficulty walking
• Short stature
• Weak and brittle bones
• Delayed tooth eruption and enamel defects

Diagnosis

Diagnosis of CLCN5 gene hypophosphatemic rickets is usually made through a combination of physical examination, medical history, and genetic testing. X-rays may also be taken to assess bone density and structure.

NGS Genetic DNA Test Cost INR:20000

NGS Genetic DNA testing is a powerful tool for diagnosing genetic disorders such as CLCN5 gene hypophosphatemic rickets. This test uses Next Generation Sequencing technology to analyze the DNA sequence of the patient. The cost of this test in India is around INR 20000.

Conclusion

CLCN5 gene hypophosphatemic rickets is a rare genetic disorder that affects the bones and teeth. Diagnosis of this disorder is usually made through a combination of physical examination, medical history, and genetic testing. NGS Genetic DNA testing is a powerful tool for diagnosing genetic disorders such as CLCN5 gene hypophosphatemic rickets, and the cost of this test in India is around INR 20000.

If you suspect that you or your child may have CLCN5 gene hypophosphatemic rickets, it is important to consult with a genetic counselor or a healthcare provider who specializes in genetic disorders. They can provide you with more information about the disorder and help you determine the best course of action.

At DNA Labs India, we offer NGS Genetic DNA testing for CLCN5 gene hypophosphatemic rickets and other genetic disorders. Our team of experts can help you understand the results of your test and provide you with guidance and support. Contact us today to learn more about our testing services.