ASNS Gene Asparaginesynthetase deficiency NGS Genetic Test
Also known as: ASNS Deficiency NGS Test, Asparagine Synthetase Deficiency Genetic Test
ASNS Gene Asparaginesynthetase deficiency 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the ASNS Gene Asparagine Synthetase Deficiency NGS Genetic Test is to identify pathogenic mutations in the ASNS gene for accurate diagnosis of ASNS deficiency, assess carrier status for family planning, and guide clinical management and treatment strategies.
- Test Code
- 4636
- 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
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Asparagine Synthetase Deficiency.
Method: Venipuncture or Cheek Swab
Laboratory Analysis
Blood sample will be collected via venipuncture, or a cheek swab may be used for DNA extraction. One drop of blood on an FTA card is also an option.
Report Delivery
The sample will be sent to the laboratory for NGS analysis. Results will be available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ASNS Gene Asparagine Synthetase Deficiency NGS Genetic Test is to identify pathogenic mutations in the ASNS gene for accurate diagnosis of ASNS deficiency, assess carrier status for family planning, and guide clinical management and treatment strategies.
How to Prepare
- Ensure proper identification and prescription
- Avoid eating or drinking if specified, though fasting is not required
- Follow instructions for sample handling to prevent contamination
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of ASNS deficiency or carrier status. Genetic counseling recommended.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation may be needed.
Variant of Uncertain Significance (VUS)
Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be advised.
Consult a healthcare professional if symptoms such as developmental delays, seizures, or feeding issues persist, or if there is a family history of ASNS deficiency.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results require interpretation by a genetic counselor or healthcare professional
- ⚠Does not assess for other metabolic disorders
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
Frequently Asked Questions
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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.
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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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