Short Description

NGS genetic DNA test detecets for variant and mutation detection in UROS gene for Porphyria congenital erythropoietic

PreTest Information

Clinical History of Patient who is going for UROS Gene Porphyria congenital erythropoietic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria congenital erythropoietic

Detail Description

UROS Gene Porphyria Congenital Erythropoietic NGS Genetic DNA Test

Porphyria is a group of rare genetic disorders that affect the production of heme, a molecule that carries oxygen in the blood. One type of porphyria is congenital erythropoietic porphyria (CEP), which is caused by mutations in the UROS gene. CEP is a rare inherited disorder that affects the production of heme in the body. It is also known as Gunther's disease.

Symptoms of CEP

The symptoms of CEP can vary from person to person, but they usually begin in early childhood. Some of the common symptoms of CEP include:

• Sensitivity to sunlight
• Blisters and sores on exposed skin
• Scarring and thickening of the skin
• Anemia
• Enlarged spleen
• Growth retardation

Diagnosis of CEP

CEP is diagnosed through a combination of physical examination, medical history, and genetic testing. The doctor will examine the skin and look for any signs of blisters, scarring, or thickening. Blood tests can also be done to check for anemia and to measure the levels of porphyrins in the blood. Genetic testing is the most definitive way to diagnose CEP.

NGS Genetic DNA Test for CEP

The NGS Genetic DNA Test for CEP is a genetic test that analyzes the UROS gene for mutations that can cause CEP. This test uses next-generation sequencing (NGS) technology to identify genetic variations in the UROS gene. The test is highly accurate and can detect even small genetic changes that can cause CEP.

Cost of NGS Genetic DNA Test for CEP

The cost of the NGS Genetic DNA Test for CEP in India is INR 20,000. The test is available at DNA Labs India, which is a leading provider of genetic testing services in India.

Conclusion

CEP is a rare genetic disorder that can cause a range of symptoms, including sensitivity to sunlight, anemia, and growth retardation. The NGS Genetic DNA Test for CEP is a highly accurate genetic test that can detect mutations in the UROS gene that cause CEP. The test is available at DNA Labs India and costs INR 20,000. If you suspect that you or a loved one may have CEP, it is important to consult a doctor and undergo genetic testing to confirm the diagnosis.

For more information on the NGS Genetic DNA Test for CEP or to schedule a consultation with a genetic counselor, please contact DNA Labs India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for UROS Gene Porphyria congenital erythropoietic NGS Genetic DNA Test