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SLC40A1 Gene Hemochromatosis type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SLC40A1 Gene Hemochromatosis type 4 NGS Genetic Test

Short Name: Hemochromatosis Type 4 Genetic Test

Also known as: Hereditary hemochromatosis type 4, SLC40A1-related iron overload

SLC40A1 Gene Hemochromatosis type 4 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose hemochromatosis type 4 by identifying pathogenic mutations in the SLC40A1 gene using Next-Generation Sequencing, facilitating early management and genetic counseling.

Test Code
4698
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 a genetic counseling session to draw a pedigree chart of family members affected with hemochromatosis type 4.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising and avoid strenuous activity for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history, symptoms, and implications of testing.
2
During the Test:Blood sample collection followed by DNA extraction and NGS analysis in the laboratory.
3
After the Test:Report generation, delivery via online portal, and optional follow-up consultation with a genetic counselor.

About This Test

Who Should Get This Test

To diagnose hemochromatosis type 4 by identifying pathogenic mutations in the SLC40A1 gene using Next-Generation Sequencing, facilitating early management and genetic counseling.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Inform the phlebotomist about any medications or health conditions
  • No specific fasting required unless advised by a physician

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis of hemochromatosis type 4 through SLC40A1 gene testing can guide personalized treatment and prevent iron overload complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples are stable for 24 hours at room temperature
Extracted DNA can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the SLC40A1 gene associated with hemochromatosis type 4. Positive results confirm the diagnosis, while negative results suggest low risk but do not exclude other causes.
📊

Negative

No pathogenic variants detected in the SLC40A1 gene, indicating low risk for hemochromatosis type 4.

📊

Positive

Pathogenic variants detected, confirming diagnosis of hemochromatosis type 4. Further clinical evaluation and treatment are recommended.

📊

Variant of uncertain significance

A genetic variant was found but its clinical significance is unknown. Additional testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms of hemochromatosis, have a family history of the condition, or receive abnormal test results, consult a healthcare provider or genetic counselor for further evaluation and management.

Limitations

  • May not detect all possible mutations or variants of uncertain significance
  • Results require interpretation by a genetic counselor or specialist
  • Does not replace clinical evaluation for other causes of iron overload

Risks & Considerations

  • Minimal physical risk from blood draw, such as bruising or discomfort
  • Psychological impact of genetic results, including anxiety or stress
  • Potential for insurance or employment discrimination based on genetic information

Interfering Factors

  • Poor sample quality or contamination
  • Technical errors in sequencing or analysis
  • Insufficient DNA quantity

Frequently Asked Questions

What is hemochromatosis type 4?
Hemochromatosis type 4 is a genetic disorder caused by mutations in the SLC40A1 gene, leading to iron overload in the body and potential organ damage.
What causes hemochromatosis type 4?
It is caused by mutations in the SLC40A1 gene, which affects ferroportin protein function, disrupting iron regulation.
What are the symptoms of hemochromatosis type 4?
Common symptoms include fatigue, joint pain, abdominal pain, weight loss, depression, darkening of the skin, and diabetes.
How is the SLC40A1 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the SLC40A1 gene for mutations from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Negative results indicate no pathogenic variants, while positive results confirm hemochromatosis type 4. Genetic counseling is recommended for interpretation.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting mutations in the SLC40A1 gene, but results should be correlated with clinical findings.
Who should get tested for hemochromatosis type 4?
Individuals with symptoms, family history of the condition, or unexplained iron overload should consider testing.
What is the treatment for hemochromatosis type 4?
Treatment may include phlebotomy, iron chelation therapy, and lifestyle modifications, guided by a healthcare provider.
Can hemochromatosis type 4 be prevented?
While the genetic condition cannot be prevented, early diagnosis and management can prevent complications and improve quality of life.
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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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.

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