ADSL Gene Adenylosuccinase deficiency NGS Genetic Test
Short Name: ADSL Gene Test
Also known as: ADSL deficiency, Adenylosuccinase deficiency genetic test, Purine metabolism disorder test
ADSL Gene Adenylosuccinase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood 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 ADSL gene for diagnosing adenylosuccinase deficiency, a metabolic disorder affecting purine metabolism, enabling early management and genetic counseling.
- Test Code
- 1874
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
No special preparation required. Ensure clinical history and pedigree chart are available for genetic counseling.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist using aseptic technique.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store sample as per guidelines for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the ADSL gene for diagnosing adenylosuccinase deficiency, a metabolic disorder affecting purine metabolism, enabling early management and genetic counseling.
How to Prepare
- Verify patient identity and consent
- Use sterile equipment for sample collection
- Label sample correctly with patient details
- Transport sample to laboratory promptly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing genetic metabolic disorders in patients with unexplained developmental delays or neurological symptoms, aiding in family planning and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Contaminated or hemolyzed sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled sample
Understanding Your Results
Positive
Pathogenic variant(s) detected, confirming diagnosis of adenylosuccinase deficiency. Carrier status may also be identified in heterozygous cases.
Action: Consult a geneticist for management, treatment options, and family planning advice.
Negative
No pathogenic variants detected in the ADSL gene. Does not rule out other genetic or metabolic disorders.
Action: Consider other diagnostic tests if symptoms persist. Genetic counseling recommended for family risk assessment.
Variant of Uncertain Significance (VUS)
A genetic variant was detected, but its clinical significance is unknown.
Action: Follow-up with periodic re-evaluation and family studies. Seek genetic counseling for guidance.
Consult a geneticist or metabolic disorder specialist if you experience symptoms like developmental delays, seizures, or have a family history of adenylosuccinase deficiency, or for preconception genetic counseling.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results require clinical correlation and genetic counseling
- ⚠Cannot determine disease severity or prognosis
Risks & Considerations
- ●Minor pain or bruising at puncture site
- ●Rare risk of infection or fainting
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Hemolyzed blood sample
- ●Improper sample storage or handling
- ●Contamination with foreign DNA
Compare With Similar Tests
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Frequently Asked Questions
What is adenylosuccinase deficiency?
What are the symptoms of adenylosuccinase deficiency?
How is the ADSL Gene NGS Genetic Test performed?
What is the cost of this genetic test?
How long does it take to receive test results?
Is home sample collection available?
What should I do if the test result is positive?
Can this test detect carrier status?
Is the test accurate?
What is the difference between NGS and traditional genetic testing?
Is genetic counseling included?
Are there any risks associated with the test?
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Reference 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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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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