Short Description

NGS genetic DNA test detecets for variant and mutation detection in CUL3 gene for Pseudohypoaldosteronism type 2E

PreTest Information

Clinical History of Patient who is going for CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test gene CUL3

Detail Description

CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test

Pseudohypoaldosteronism type 2E (PHA2E) is a rare genetic disorder that affects the regulation of salt and water in the body. This disorder is caused by mutations in the CUL3 gene, which encodes a protein involved in the degradation of other proteins. PHA2E is characterized by hypertension, hyperkalemia, and metabolic acidosis. Symptoms can range from mild to severe and can include headaches, fatigue, muscle weakness, and nausea.

Symptoms of PHA2E

• Hypertension
• Hyperkalemia
• Metabolic acidosis
• Headaches
• Fatigue
• Muscle weakness
• Nausea

Diagnosis of PHA2E

PHA2E is diagnosed using a combination of clinical findings and genetic testing. A doctor may suspect PHA2E in a patient with unexplained hypertension, hyperkalemia, or metabolic acidosis. Genetic testing can confirm the diagnosis by identifying mutations in the CUL3 gene.

CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test

The CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test is a genetic test that uses next-generation sequencing (NGS) technology to analyze the CUL3 gene. This test can identify mutations in the CUL3 gene that are associated with PHA2E. The test is performed on a blood or saliva sample and can be ordered by a doctor or genetic counselor.

Cost of CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test

The cost of the CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

PHA2E is a rare genetic disorder that can cause hypertension, hyperkalemia, and metabolic acidosis. The CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic DNA Test is a genetic test that can identify mutations in the CUL3 gene that are associated with PHA2E. The cost of the test in India is approximately INR 20,000. If you suspect that you or a loved one may have PHA2E, speak to a doctor or genetic counselor to determine if genetic testing is appropriate.