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CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic Test

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CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic Test

Short Name: CD46 Gene HUS NGS Test

Also known as: Atypical Hemolytic Uremic Syndrome Type 2, CD46-related HUS

CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

🩺 Medically Reviewed By

Overview

To identify mutations in the CD46 gene for diagnosing susceptibility to atypical hemolytic uremic syndrome type 2.

Test Code
5418
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 Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card.

Step 3

Report Delivery

The sample is transported to the laboratory for genetic analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, informed consent, and collection of clinical history.
2
During the Test:Non-invasive blood draw or sample collection on FTA card.
3
After the Test:Wait for the genetic analysis report, typically in 3-4 weeks, and follow up with a healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the CD46 gene for diagnosing susceptibility to atypical hemolytic uremic syndrome type 2.

How to Prepare

  • Ensure proper labeling of samples
  • Avoid hemolysis in blood samples
  • Follow instructions for FTA card use

Doctor's Notes

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

"Genetic testing for CD46 mutations is essential for diagnosing atypical HUS and tailoring treatment strategies to prevent kidney failure."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples: stable for 24 hours at room temperature
FTA cards: stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Genetic test results should be interpreted by a clinical geneticist or nephrologist in the context of clinical findings.
📊

Pathogenic mutation detected in CD46 gene

Confirms genetic susceptibility to atypical HUS type 2; clinical correlation and monitoring recommended

📊

No pathogenic mutation detected

Reduced likelihood of CD46-related HUS, but other causes should be considered

⚠️ When to Consult a Doctor:

If you experience symptoms of HUS such as bloody diarrhea, abdominal pain, or kidney issues, or if there is a family history of atypical HUS, consult a nephrologist or genetic counselor immediately.

Limitations

  • May not detect all mutations
  • Results require clinical correlation
  • Not a standalone diagnostic tool

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Potential psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • DNA degradation
  • Technical errors in sequencing

Compare With Similar Tests

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ComparisonCD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic Test

Frequently Asked Questions

What is CD46 Gene HUS?
CD46 Gene HUS is a rare genetic disorder caused by mutations in the CD46 gene, leading to atypical hemolytic uremic syndrome type 2, which affects blood vessels and can cause kidney failure.
What are the symptoms of CD46 Gene HUS?
Symptoms include bloody diarrhea, abdominal pain, fever, fatigue, reduced urine output, and swelling in the legs, ankles, or feet.
How is CD46 Gene HUS diagnosed?
Diagnosis involves blood tests, urine tests, and genetic testing to identify mutations in the CD46 gene using NGS technology.
What is the cost of the CD46 Gene HUS NGS Genetic Test at DNA Labs India?
The cost is INR 20000, which includes sample collection, genetic analysis, and report generation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider taking this genetic test?
Individuals with symptoms of HUS, a family history of atypical HUS, unexplained kidney failure, or those undergoing genetic counseling.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the CD46 gene, confirming susceptibility to atypical HUS type 2 and requiring clinical monitoring.
Can this test help in treatment planning?
Yes, identifying CD46 mutations can guide treatment decisions, such as complement inhibitor therapy, to manage the condition effectively.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is strongly recommended to discuss implications, interpret results, and provide support.
Are there any risks associated with the genetic test?
Risks are minimal, primarily related to blood draw, such as bruising; psychological impact of results is also possible.
How accurate is the NGS genetic test for CD46 mutations?
NGS technology is highly accurate for detecting genetic variants, but results should be correlated with clinical findings by a healthcare professional.
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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