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THBD Gene Hemolytic uremic syndrome NGS Genetic Test

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THBD Gene Hemolytic uremic syndrome NGS Genetic Test

Short Name: THBD Gene HUS NGS Test

Also known as: THBD gene HUS test, Thrombomodulin gene test, HUS genetic test

THBD Gene Hemolytic uremic syndrome 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.

NGS Genetic Test🏠 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 detect mutations in the THBD gene associated with hemolytic uremic syndrome, aiding in early diagnosis, treatment decisions, and genetic counseling.

Test Code
5417
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 family pedigree. No specific fasting required unless advised by physician.

Method: Venipuncture or finger prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick for FTA card. Ensure proper labeling.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as per instructions. Await report in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and family pedigree. No specific preparation required.
2
During the Test:Sample collection takes a few minutes. Minimal discomfort expected.
3
After the Test:Resume normal activities. Await report online or via email.

About This Test

Who Should Get This Test

To detect mutations in the THBD gene associated with hemolytic uremic syndrome, aiding in early diagnosis, treatment decisions, and genetic counseling.

How to Prepare

  • Use sterile collection tubes
  • Avoid hemolysis during blood draw
  • For FTA card, ensure one drop of blood is applied correctly
  • Transport sample at ambient temperature

Doctor's Notes

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

"Early genetic diagnosis of THBD gene mutations can guide treatment and family counseling, especially in cases of recurrent HUS or family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick for FTA card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the THBD gene. A positive result suggests genetic predisposition to HUS, while a negative result may not exclude other causes.
Pathogenic variant detected: Confirms genetic etiology, consider family screening and targeted therapy.
Variant of uncertain significance: Requires further evaluation and genetic counseling.
No pathogenic variants detected: Genetic cause unlikely, but clinical correlation is needed.
⚠️ When to Consult a Doctor:

Consult a nephrologist or genetic specialist if symptoms persist, results are positive, or for family planning advice.

Limitations

  • ⚠May not detect all genetic variants or epigenetic changes
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other causes of HUS

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Recent blood transfusion may affect results

Frequently Asked Questions

What is the THBD Gene Hemolytic Uremic Syndrome NGS Genetic Test?
It is a next-generation sequencing test that analyzes the THBD gene for mutations associated with hemolytic uremic syndrome, helping in early diagnosis and management.
Who should consider this test?
Individuals with a family history of HUS, symptoms like bloody diarrhea and kidney issues, or unexplained kidney failure should consider this test.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across many cities.
How is the sample collected?
A blood sample is collected via venipuncture or a finger prick for an FTA card. Home collection is available.
Is fasting required before the test?
No, fasting is not required unless specified by your physician.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants are detected in the THBD gene. A positive result suggests genetic predisposition to HUS, while negative may not exclude other causes.
Is the test accurate?
NGS is highly accurate for detecting genetic variants, but results should be interpreted by a genetic counselor or specialist.
Can this test be used for family planning?
Yes, it helps in genetic counseling for families with HUS history to assess risk and guide decisions.
What are the risks of the test?
Risks are minimal, mainly from blood draw (bruising, infection). Psychological impact of results is possible.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
How do I book the test?
Book online via DNA Labs India website or contact them directly. Free home collection is available in numerous cities.
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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✓ 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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