GLUL Gene Glutamine deficiency, congenital NGS Genetic Test
Short Name: GLUL Gene Test
Also known as: Congenital Glutamine Deficiency Test, GLUL Gene Mutation Analysis
GLUL Gene Glutamine deficiency, congenital 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose congenital glutamine deficiency by identifying mutations in the GLUL gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 2012
- 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
No special preparation required. Provide clinical history and pedigree chart if available.
Method: Venipuncture or FTA card
Laboratory Analysis
Sample collected via venipuncture or FTA card. Minimal discomfort.
Report Delivery
Apply pressure to the collection site to stop bleeding.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose congenital glutamine deficiency by identifying mutations in the GLUL gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper labeling of sample
- Avoid hemolysis in blood samples
- Store samples at appropriate temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of GLUL gene deficiency is crucial for timely intervention and family counseling to manage symptoms and improve quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or degraded samples
- Incorrect labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of GLUL gene glutamine deficiency. Consult a geneticist for management.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed. Clinical correlation is advised.
No pathogenic variant detected
GLUL gene glutamine deficiency is unlikely, but other genetic or metabolic causes should be considered.
If test results are positive or uncertain, consult a genetic specialist or neurologist for appropriate management and counseling.
Limitations
- ⚠May not detect all rare mutations or epigenetic changes
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minimal risks from blood collection
- ●Psychological impact of genetic results
- ●Importance of genetic counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
Compare With Similar Tests
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|---|---|---|---|
| Comparison | GLUL Gene Glutamine deficiency, congenital NGS Genetic Test |
Frequently Asked Questions
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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.
Your Data Privacy
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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