Short Description

NGS genetic DNA test detecets for variant and mutation detection in EPAS1 gene for Erythrocytosis, familial type 4

PreTest Information

Clinical History of Patient who is going for EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic DNA Test gene EPAS1

Detail Description

EPAS1 Gene Erythrocytosis, Familial Type 4 NGS Genetic DNA Test

EPAS1 gene erythrocytosis, familial type 4 is a rare genetic disorder that causes the body to produce too many red blood cells. This condition is caused by a mutation in the EPAS1 gene, which provides instructions for making a protein that helps regulate the production of red blood cells.

Symptoms of EPAS1 Gene Erythrocytosis, Familial Type 4

The symptoms of EPAS1 gene erythrocytosis, familial type 4 can vary from person to person. Some people may have no symptoms at all, while others may experience:

• Fatigue
• Dizziness
• Headaches
• Shortness of breath
• Chest pain
• Blurred vision
• Tinnitus (ringing in the ears)

Diagnosis of EPAS1 Gene Erythrocytosis, Familial Type 4

The diagnosis of EPAS1 gene erythrocytosis, familial type 4 is usually made through genetic testing. This involves analyzing a sample of your DNA to look for mutations in the EPAS1 gene. Genetic testing can be done using a variety of methods, including:

• NGS (Next-Generation Sequencing)
• Sanger sequencing
• PCR (polymerase chain reaction)

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for EPAS1 gene erythrocytosis, familial type 4 can vary depending on the provider. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

If you are experiencing symptoms of EPAS1 gene erythrocytosis, familial type 4 or have a family history of this condition, it is important to speak with a genetic counselor or healthcare provider. They can help you understand the risks and benefits of genetic testing and determine if it is right for you.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for EPAS1 gene erythrocytosis, familial type 4. Contact us today to learn more.