Sickle Cell Anemia Mutation Detection Test
Short Name: SCA Mutation Detection
Sickle Cell Anemia Mutation Detection Test test available at DNA Labs India for ₹4,500. Uses PCR, Sequencing on Whole Blood samples. Results in Reports will be delivered within 4-5 days after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect the specific genetic mutation (GAG>GTG at codon 6 of the HBB gene) responsible for sickle cell anemia. In heterozygous carriers, the presence of the normal allele typically ensures sufficient normal hemoglobin production to prevent severe polymerization; however, in homozygous individuals, long-chain polymers of hemoglobin S deform red blood cells into fragile, spiky shapes that block capillaries and cause ischemic tissue damage. This test assists clinicians in confirming a diagnosis of sickle cell disease, identifying carriers, and facilitating informed reproductive decisions.
- Test Code
- 3635
- Price
- ₹4,500
- Sample Type
- Whole Blood
- Result Time
- Reports will be delivered within 4-5 days after sample collection.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
No special preparation is required. Please ensure to bring the duly filled Form 20. Inform your healthcare provider about any medications (especially hydroxyurea) and recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm by a trained phlebotomist.
Report Delivery
You can resume normal activities immediately. Minor bruising at the puncture site may occur and will resolve on its own.
Timeline: Reports will be delivered within 4-5 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect the specific genetic mutation (GAG>GTG at codon 6 of the HBB gene) responsible for sickle cell anemia. In heterozygous carriers, the presence of the normal allele typically ensures sufficient normal hemoglobin production to prevent severe polymerization; however, in homozygous individuals, long-chain polymers of hemoglobin S deform red blood cells into fragile, spiky shapes that block capillaries and cause ischemic tissue damage. This test assists clinicians in confirming a diagnosis of sickle cell disease, identifying carriers, and facilitating informed reproductive decisions.
How to Prepare
- Collection tube: Lavender Top (EDTA)
- Ship refrigerated; do not freeze
- Mandatory: Duly filled Genomics requisition form (Form 20)
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early confirmation of sickle cell mutation status is vital for effective management. I recommend this test for individuals with clinical suspicion, a family history of sickle cell disease, or for prenatal/preconception screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received frozen
- Insufficient volume (<2 mL)
- Clotted or hemolyzed sample
- Missing or incomplete requisition form (Form 20)
Understanding Your Results
If you or your child experience symptoms like painful episodes, fatigue, jaundice, or have a family history of sickle cell disease, consult a physician or genetic counsellor for further evaluation and testing.
Limitations
- ⚠This test detects the common sickle cell mutation (GAG>GTG). It may not detect other rare beta-globin gene mutations causing sickle cell disease; in such cases, full gene sequencing may be needed.
Risks & Considerations
- ●Minor pain or bruising at the injection site
- ●Lightheadedness or fainting (rare)
- ●Infection (very rare)
Frequently Asked Questions
What is sickle cell anemia?
What is the Sickle Cell Anemia Mutation Detection Test?
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How much does the test cost in India?
Do I need to fast before the test?
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Is this test different from hemoglobin electrophoresis?
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