SERPINA1 Gene Antitrypsin-alpha-1 deficiency NGS Genetic Test
Short Name: SERPINA1 Gene Test
Also known as: Alpha-1 Antitrypsin Deficiency Test, SERPINA1 Mutation Analysis, AAT Deficiency Genetic Test
SERPINA1 Gene Antitrypsin-alpha-1 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
The purpose of the SERPINA1 Gene Antitrypsin-alpha-1 Deficiency NGS Genetic Test is to identify mutations in the SERPINA1 gene that cause alpha-1 antitrypsin deficiency. This test aids in confirming a diagnosis, assessing carrier status, guiding treatment decisions, and facilitating genetic counselling for affected individuals and their families. It is particularly valuable for patients with unexplained lung or liver disease, a family history of the condition, or for prenatal and preconception planning. By providing definitive genetic information, this test helps in managing symptoms, preventing disease progression, and informing family members about their risk.
- Test Code
- 1892
- 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
No specific preparation is required. Provide clinical history and undergo genetic counselling as recommended.
Method: Blood draw or FTA Card
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood will be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bruising. Resume normal activities. The sample will be processed in the laboratory for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SERPINA1 Gene Antitrypsin-alpha-1 Deficiency NGS Genetic Test is to identify mutations in the SERPINA1 gene that cause alpha-1 antitrypsin deficiency. This test aids in confirming a diagnosis, assessing carrier status, guiding treatment decisions, and facilitating genetic counselling for affected individuals and their families. It is particularly valuable for patients with unexplained lung or liver disease, a family history of the condition, or for prenatal and preconception planning. By providing definitive genetic information, this test helps in managing symptoms, preventing disease progression, and informing family members about their risk.
How to Prepare
- Ensure the patient is relaxed and hydrated
- Use sterile equipment for blood draw
- Label the sample correctly with patient details
- For FTA cards, follow specific collection guidelines
- Transport sample at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early detection and management of AAT deficiency, preventing severe lung and liver complications. Genetic counselling is recommended for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated sample
- Incorrect labeling
- Improper storage conditions
Understanding Your Results
Normal (No pathogenic variants)
No mutations detected in the SERPINA1 gene. The individual is unlikely to have alpha-1 antitrypsin deficiency, but clinical correlation is advised.
Pathogenic variant detected
One or more mutations in the SERPINA1 gene identified, confirming alpha-1 antitrypsin deficiency or carrier status. Further management and genetic counselling are recommended.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Repeat testing or family studies may be needed.
Consult a doctor if you experience symptoms like shortness of breath, wheezing, jaundice, or abdominal pain, or if there is a family history of alpha-1 antitrypsin deficiency. Genetic counselling is recommended before and after testing.
Limitations
- ⚠May not detect all rare or novel mutations
- ⚠Requires genetic counselling for interpretation
- ⚠Does not measure serum AAT levels directly
- ⚠Results may be influenced by technical factors in sequencing
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Slight risk of infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample collection or storage
Compare With Similar Tests
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Frequently Asked Questions
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