SERPINC1 Gene Antithrombin III deficiency NGS Genetic Test
Short Name: ATIII Deficiency NGS Test
Also known as: Antithrombin III Deficiency Genetic Test, SERPINC1 Mutation Analysis, Hereditary Antithrombin Deficiency Test
SERPINC1 Gene Antithrombin III deficiency 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect pathogenic mutations in the SERPINC1 gene for diagnosing hereditary antithrombin III deficiency, guiding clinical management, and informing family risk assessment.
- Test Code
- 2560
- 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)
Sample Collection
Provide detailed clinical history and family pedigree. Genetic counseling session is advised to discuss test implications.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
Standard blood draw procedure using venipuncture or FTA card collection. Minimal discomfort expected.
Report Delivery
Sample is labeled and transported to the laboratory under controlled conditions for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the SERPINC1 gene for diagnosing hereditary antithrombin III deficiency, guiding clinical management, and informing family risk assessment.
How to Prepare
- No fasting required; maintain ambient room temperature for sample
- Ensure proper identification and labeling of sample
- Follow aseptic techniques to avoid contamination
- For FTA card, apply one drop of blood and air-dry completely
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SERPINC1 mutations is essential for diagnosing hereditary antithrombin deficiency, which increases the risk of thrombotic events. Early detection guides personalized anticoagulation therapy and family screening."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Incorrect sample type or container
- Missing patient identification or consent
- Sample exposed to extreme temperatures or delays beyond stability period
Understanding Your Results
Positive (Pathogenic Variant Detected)
Confirms diagnosis of hereditary antithrombin III deficiency. Increases risk of thrombotic events; clinical management and family screening recommended.
Negative (No Pathogenic Variant Detected)
No SERPINC1 mutations identified. Does not rule out other causes of clotting disorders; clinical correlation with functional tests is advised.
Variant of Uncertain Significance (VUS)
Genetic variant detected with unclear clinical significance. Further testing, family studies, and genetic counseling are recommended.
Consult a healthcare provider if you experience symptoms like unexplained swelling, pain, shortness of breath, or chest pain, or have a family history of clotting disorders. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all possible genetic variants or large deletions/duplications
- ⚠Requires confirmation by Sanger sequencing for certain variants
- ⚠Results should be correlated with clinical history and functional antithrombin assays
- ⚠Genetic counseling is recommended for interpretation and family implications
Risks & Considerations
- ●Minimal risk from blood draw: slight pain, bruising, or infection at puncture site
- ●Genetic implications: potential psychological impact or family dynamics; genetic counseling recommended
Interfering Factors
- ●Recent blood transfusions or anticoagulant therapy may affect sample quality
- ●Sample contamination or improper storage
- ●Presence of other genetic variants of uncertain significance
Compare With Similar Tests
| Test | SERPINC1 Gene Antithrombin III deficiency NGS Genetic Test | Factor V Leiden Mutation Test | Prothrombin Gene Mutation Test | Protein C or S Activity Test |
|---|---|---|---|---|
| Comparison | SERPINC1 Gene Antithrombin III deficiency NGS Genetic Test |
Frequently Asked Questions
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₹20,000Reference 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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