Short Description

NGS genetic DNA test detecets for variant and mutation detection in EPOR gene for Erythrocytosis, familial type 1

PreTest Information

Clinical History of Patient who is going for EPOR Gene Erythrocytosis, familial type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EPOR Gene Erythrocytosis, familial type 1 NGS Genetic DNA Test gene EPOR

Detail Description

EPOR Gene Erythrocytosis, familial type 1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

EPOR Gene Erythrocytosis, familial type 1 is a rare genetic disorder that affects the production of red blood cells in the body. The condition is caused by a mutation in the EPOR gene, which is responsible for producing a protein called erythropoietin receptor. This protein plays a crucial role in the production of red blood cells.

Individuals with familial erythrocytosis type 1 have a higher than normal number of red blood cells in their body, which can lead to complications such as blood clots, stroke, and heart attack. Symptoms of this condition include fatigue, shortness of breath, dizziness, and headaches.

Diagnosis

Diagnosing familial erythrocytosis type 1 can be challenging, as the condition is rare and often goes undiagnosed for years. However, a genetic test known as Next Generation Sequencing (NGS) can be used to identify the mutation in the EPOR gene that causes the condition.

The NGS test is a highly accurate and reliable way to diagnose familial erythrocytosis type 1. It involves analyzing a sample of the patient's DNA to identify any mutations in the EPOR gene. This test can be performed by a qualified genetic testing laboratory, such as DNA Labs India.

Treatment

There is no cure for familial erythrocytosis type 1, but there are treatments available to manage the symptoms and complications of the condition. These may include medications to reduce the number of red blood cells in the body, blood thinners to prevent blood clots, and regular blood transfusions.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for familial erythrocytosis type 1 at DNA Labs India is INR 20000. This includes the cost of the test kit, laboratory analysis, and a detailed report of the results.

Conclusion

Familial erythrocytosis type 1 is a rare genetic disorder that can have serious complications if left untreated. However, with early diagnosis and proper treatment, individuals with this condition can manage their symptoms and lead a normal life. The NGS Genetic DNA Test offered by DNA Labs India is a reliable and accurate way to diagnose this condition, and can help patients get the treatment they need.

For more information about the NGS Genetic DNA Test or to schedule an appointment, please contact DNA Labs India today.