Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLCN5 gene for Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

PreTest Information

Clinical History of Patient who is going for CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis NGS Genetic DNA Test gene CLCN5

Detail Description

CLCN5 Gene Proteinuria - DNA Labs India

Proteinuria is a condition in which excess protein is present in the urine. It can be a sign of underlying kidney disease. One of the causes of proteinuria is a genetic disorder called CLCN5 Gene Proteinuria.

What is CLCN5 Gene Proteinuria?

CLCN5 Gene Proteinuria is a rare genetic disorder that affects the kidneys. It is caused by mutations in the CLCN5 gene, which provides instructions for making a protein that helps regulate the transport of ions across cell membranes in the kidneys. This protein is involved in the reabsorption of filtered proteins and calcium in the kidneys.

Symptoms of CLCN5 Gene Proteinuria

CLCN5 Gene Proteinuria can cause a variety of symptoms, including:

• Proteinuria - excess protein in the urine
• Low molecular weight - smaller proteins are filtered out of the blood and appear in the urine
• Hypercalciuric nephrocalcinosis - calcium deposits in the kidneys
• Kidney stones
• Weak bones
• High blood pressure
• Chronic kidney disease

Diagnosis of CLCN5 Gene Proteinuria

CLCN5 Gene Proteinuria can be diagnosed through a combination of clinical evaluation, laboratory tests, and genetic testing. A urine test can detect excess protein in the urine, while imaging tests such as ultrasound or CT scan can detect calcium deposits in the kidneys. Genetic testing can confirm the presence of mutations in the CLCN5 gene.

NGS Genetic DNA Test cost at DNA Labs India

DNA Labs India offers Next Generation Sequencing (NGS) Genetic DNA Test for CLCN5 Gene Proteinuria at a cost of INR 20,000. This test uses advanced DNA sequencing technology to analyze the entire coding region of the CLCN5 gene, allowing for the detection of mutations that may be missed by traditional genetic testing methods.

Conclusion

CLCN5 Gene Proteinuria is a rare genetic disorder that can cause proteinuria, low molecular weight, and hypercalciuric nephrocalcinosis. It can be diagnosed through a combination of clinical evaluation, laboratory tests, and genetic testing. DNA Labs India offers Next Generation Sequencing (NGS) Genetic DNA Test for CLCN5 Gene Proteinuria at a cost of INR 20,000.

For more information or to schedule an appointment, please contact DNA Labs India.