Test Price
2,800 AED✅ Home Collection Available
GSS Gene Glutathione Synthetase Deficiency Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GSS Gene Glutathione Synthetase Deficiency Genetic Test examines the entire coding region of the GSS gene using next-generation sequencing (NGS) to identify pathogenic mutations causing glutathione synthetase deficiency – a rare metabolic disorder characterized by chronic hemolytic anemia, neurological decline, and severe oxidative stress. Whole-gene coverage ensures detection of single nucleotide variants (SNVs), insertions/deletions (indels), copy number variations (CNVs), and novel variants.
| Feature | Our NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Methodology | Next Generation Sequencing (full gene coverage) | Targeted Sanger Sequencing (limited regions) |
| Diagnostic Sensitivity | >99.9% | 85–90% |
| Mutation Detection | SNVs, indels, CNVs, novel variants | Known hotspot mutations only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Genetic Counseling Support | Included pre‑ and post‑test | Often separate |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the complexity of rare metabolic disorders. This advanced NGS analysis precisely identifies the causative GSS mutation, enabling targeted antioxidant therapy and informed family screening. Always correlate genetic results with clinical presentation and specialist evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Safety
⚠ Do not discontinue any prescribed medication or supplement without consulting your doctor. The test results are for diagnostic support only and must not be used as a sole basis for therapeutic changes. Always seek professional medical advice before initiating or altering treatment.
Exclusion Criteria & Emergency Red Flags
- Avoid sample collection if the patient has an acute febrile illness or recent blood transfusion (within 2 weeks) that may compromise DNA quality.
- If the individual has undergone a bone marrow transplant or allogeneic hematopoietic stem cell transplant, the test may yield donor‑derived results; inform the laboratory in advance.
- Seek immediate emergency care (999 or nearest ER) if you experience signs of a hemolytic crisis: sudden severe fatigue, pallor, dark urine, jaundice, confusion, or shortness of breath.
Patient FAQ & Clinical Guidance
1. What does the GSS Gene NGS test detect?
A: This test identifies pathogenic mutations in the GSS gene causing glutathione synthetase deficiency, a rare metabolic disorder affecting antioxidant defense. It covers the entire coding region via NGS, detecting SNVs, indels, CNVs, and novel variants. Results guide antioxidant therapy (e.g., N‑acetylcysteine) and enable carrier screening for family members.
2. Why choose NGS over conventional genetic testing?
A: NGS provides comprehensive whole-gene analysis with >99.9% diagnostic sensitivity, outperforming targeted Sanger sequencing (85–90%). It captures known and novel variants in a single run and delivers results in 3–4 weeks under ISO‑accredited processes.
3. How is home sample collection arranged in the UAE?
A: Our ISO‑certified phlebotomists perform a venous blood draw at your home using an EDTA tube (3–5 mL) or a finger‑prick FTA card. Book via WhatsApp +971 54 548 8731 (8 AM to 11 PM). Samples are transported under strict cold‑chain conditions to our DHA‑licensed lab. No special preparation is needed beyond mandatory pre‑test genetic counseling.
4. What is included in the test price of 2,800 AED?
A: The price covers the full NGS analysis, pre‑ and post‑test genetic counseling, VIP home phlebotomy (if selected), a detailed clinical report, and telephonic result interpretation. Insurance direct billing can be verified via WhatsApp.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory & ISO Compliance
This genetic analysis strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All samples are processed in a DHA‑licensed facility (License No. 1143) under ISO 9001:2015 certified quality management (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | GSS Gene Glutathione Synthetase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (21–28 Days) |
| Sample Type / Matrix | Whole Blood (EDTA, 3–5 mL), Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | E72.89 |
| LOINC Code | 94030-2 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians