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DNA Labs India

Sickle Cell Disease Mutation Screening Test

DNA Labs India | ISO 9001:2015 Certified

Sickle Cell Disease Mutation Screening Test

Short Name: SCD Mutation Screening

Also known as: Sickle Cell Anemia Mutation Test, Hemoglobin S Mutation Screening, SCD Genetic Test

Sickle Cell Disease Mutation Screening Test test available at DNA Labs India for ₹5,250. Uses End Point PCR on Peripheral blood samples. Results in 3-4 days. Free home collection in 300+ cities across India.

Molecular Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the HBB gene that cause Sickle Cell Disease, enabling early diagnosis, carrier screening, and informed family planning.

Test Code
3195
Price
₹5,250
Sample Type
Peripheral blood
Result Time
3-4 days
Fasting Required
No
Method
End Point PCR
Step 1

Sample Collection

No special preparation required. Inform the lab about any medications or recent transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3-4 days

Patient Instructions

1
Before the Test:No specific preparation needed. Ensure to provide accurate medical and family history.
2
During the Test:The test involves a simple blood draw, which takes a few minutes and is performed by a healthcare professional.
3
After the Test:You may experience slight discomfort at the puncture site. Results will be available online within 3-4 days.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the HBB gene that cause Sickle Cell Disease, enabling early diagnosis, carrier screening, and informed family planning.

How to Prepare

  • Stay hydrated
  • Wear loose clothing for easy access
  • Provide accurate medical history

Doctor's Notes

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

"Early screening for Sickle Cell Disease is vital for family planning and managing symptoms. This test provides accurate genetic information for informed decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Sample stable at room temperature for 24 hours
Refrigerate for longer storage up to 48 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container or labeling

Understanding Your Results

Results indicate the presence or absence of genetic mutations associated with Sickle Cell Disease.
📊

Negative

No mutations detected. Normal hemoglobin production. Low risk for Sickle Cell Disease.

📊

Positive

Mutations detected. Indicates carrier status or affected individual. Consult a genetic counselor for management.

⚠️ When to Consult a Doctor:

If you have a family history of Sickle Cell Disease, experience symptoms like anemia or pain, or test positive, consult a healthcare provider or genetic counselor immediately.

Limitations

  • May not detect all rare mutations
  • Cannot determine disease severity
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minimal risk from blood draw: bruising, slight pain, or infection at puncture site
  • No significant long-term risks

Interfering Factors

  • Recent blood transfusion
  • Bone marrow transplant
  • Certain medications affecting hemoglobin

Compare With Similar Tests

TestSickle Cell Disease Mutation ScreeningHemoglobin ElectrophoresisSickle Cell Solubility Test
ComparisonSickle Cell Disease Mutation Screening

Frequently Asked Questions

What is Sickle Cell Disease Mutation Screening?
It is a genetic test that identifies mutations in the HBB gene responsible for Sickle Cell Disease, using DNA analysis from a blood sample.
Why is this test important?
Early detection helps in managing symptoms, preventing complications, and making informed family planning decisions, especially for those with a family history.
How is the test performed?
A small blood sample is collected from a vein and analyzed using End Point PCR to detect specific genetic mutations.
What are the symptoms of Sickle Cell Disease?
Common symptoms include anemia, pain crises, swelling in hands and feet, jaundice, frequent infections, delayed growth, and vision problems.
Who should get tested?
Individuals with a family history of Sickle Cell Disease, those experiencing symptoms, or couples planning pregnancy in high-risk populations.
What does a positive result mean?
A positive result indicates the presence of mutations, suggesting carrier status or affected individual. Consult a genetic counselor for next steps.
Is the test painful?
The test involves a standard blood draw, which may cause minimal discomfort similar to any blood test.
How long does it take to get results?
Results are typically available within 3-4 days after sample collection.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the cost of the test?
The test costs INR 5250, which includes sample collection, analysis, and report delivery.
Can this test be used for prenatal diagnosis?
Yes, it can be part of prenatal genetic screening, but consult a healthcare provider for appropriate testing options.
How accurate is the test?
The test uses advanced DNA testing methods like End Point PCR, providing high accuracy for detecting known mutations.
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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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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