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KLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test

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KLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test

Short Name: KLHL3 Gene PHA2D Test

Also known as: Pseudohypoaldosteronism type 2D, PHA2D, KLHL3-related disorder

KLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

NGS 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

To diagnose Pseudohypoaldosteronism type 2D by detecting mutations in the KLHL3 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5344
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or DNA extracted from provided sample.

Step 3

Report Delivery

Sample is transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Non-invasive blood draw or DNA extraction procedure.
3
After the Test:Results are reviewed with a healthcare provider for interpretation and management planning.

About This Test

Who Should Get This Test

To diagnose Pseudohypoaldosteronism type 2D by detecting mutations in the KLHL3 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques during collection
  • Use recommended containers for sample stability

Doctor's Notes

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

"Genetic testing for KLHL3 mutations is crucial for accurate diagnosis and management of Pseudohypoaldosteronism type 2D, especially in families with a history of hypertension and electrolyte disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: Store at 2-8°C for up to 24 hours
DNA: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the KLHL3 gene, which are associated with Pseudohypoaldosteronism type 2D.
📊

Positive

Pathogenic variant detected in KLHL3 gene, consistent with Pseudohypoaldosteronism type 2D. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variants detected in KLHL3 gene. However, clinical symptoms may require further evaluation.

⚠️ When to Consult a Doctor:

If symptoms such as hypertension or electrolyte imbalances persist, or if there is a family history of Pseudohypoaldosteronism type 2D.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Results should be interpreted by a healthcare professional

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic test results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestKLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic TestKLHL3 Gene SequencingPseudohypoaldosteronism Genetic Panel
ComparisonKLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test

Frequently Asked Questions

What is Pseudohypoaldosteronism type 2D?
Pseudohypoaldosteronism type 2D (PHA2D) is a rare genetic disorder characterized by hypertension, electrolyte imbalances, and other symptoms due to mutations in the KLHL3 gene.
What causes PHA2D?
PHA2D is caused by mutations in the KLHL3 gene, which affects renal ion transport and leads to hypertension and electrolyte abnormalities.
What are the symptoms of PHA2D?
Symptoms include hypertension, low potassium levels, muscle weakness, excessive thirst, frequent urination, and developmental delays in children.
How is PHA2D diagnosed?
Diagnosis is confirmed through genetic testing, such as the KLHL3 Gene NGS Genetic Test, along with clinical evaluation.
What is the KLHL3 gene test?
The KLHL3 gene test uses NGS technology to detect mutations in the KLHL3 gene associated with Pseudohypoaldosteronism type 2D.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is analyzed using NGS technology in a laboratory.
What is the cost of the test?
The cost of the KLHL3 Gene NGS Genetic Test at DNA Labs India is INR 20000.
Is the test painful?
The test is non-invasive and painless, involving a standard blood draw or DNA extraction.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Positive results indicate a mutation in the KLHL3 gene, suggesting PHA2D. Negative results mean no pathogenic variants were detected, but clinical correlation is needed.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand the implications and manage the condition effectively.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
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.

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