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CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test

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CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test

Short Name: CUL3 PHA2E NGS Test

Also known as: Pseudohypoaldosteronism type 2E, PHA2E

CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test is to identify mutations in the CUL3 gene that cause PHA2E, enabling accurate diagnosis, informing treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
5345
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with PHA2E.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or saliva sample obtained using a collection kit.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Sample collection via blood draw or saliva; minimal discomfort expected.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

The purpose of the CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test is to identify mutations in the CUL3 gene that cause PHA2E, enabling accurate diagnosis, informing treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile equipment for blood draw
  • Follow kit instructions for saliva or FTA card collection
  • Label samples correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for diagnosing PHA2E in patients with unexplained hypertension and hyperkalemia, aiding in targeted treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Room TemperatureUp to 48 hours for blood
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CUL3 gene. A positive result confirms PHA2E diagnosis, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of PHA2E; recommend clinical management and genetic counseling.

📊

Negative for pathogenic variant

No mutations detected in CUL3 gene; consider other causes of symptoms.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like hypertension, hyperkalemia, or metabolic acidosis, or if you have a family history of PHA2E. After receiving test results, discuss them with a healthcare provider for appropriate management.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Minimal risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Recent blood transfusions
  • ●Degraded DNA in sample

Frequently Asked Questions

What is the CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to analyze the CUL3 gene for mutations causing PHA2E, a disorder affecting salt and water regulation.
What are the symptoms of PHA2E?
Symptoms include hypertension, hyperkalemia, metabolic acidosis, headaches, fatigue, muscle weakness, and nausea.
How is PHA2E diagnosed?
Diagnosis involves clinical evaluation for hypertension and electrolyte imbalances, confirmed by genetic testing to identify CUL3 gene mutations.
What sample is required for this test?
The test can be performed on blood, extracted DNA, or a blood sample on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test in India?
The cost is approximately INR 20,000, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
Who should consider this test?
Individuals with unexplained hypertension, hyperkalemia, metabolic acidosis, or a family history of PHA2E should consider this test.
What does a positive result mean?
A positive result confirms a diagnosis of PHA2E, indicating mutations in the CUL3 gene that require medical management.
Are there any risks associated with the test?
Risks are minimal, such as minor discomfort from blood draw, but genetic results may have psychological implications.
How accurate is the NGS technology for this test?
NGS technology is highly accurate for detecting genetic variants, but results should be interpreted in clinical context.
What should I do after receiving the test results?
Discuss results with a healthcare provider or genetic counselor to understand implications and plan appropriate management.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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