Test Price
2,800 AED✅ Home Collection Available
D2HGDH Gene Next‑Generation Sequencing (NGS) Test for D‑2‑Hydroxyglutaric Aciduria Type 1
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity through ISO 9001:2015‑accredited Next‑Generation Sequencing.
Premium Logistics: Paid Hospital‑Grade Home Collection via ISO‑Certified Cold‑Chain Home Collection & VIP Mobile Phlebotomy.
Clinical Guidance: Telephonic Post‑Test Clinical Result Interpretation Guidance included.
Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
This advanced NGS‑based genetic test fully sequences the D2HGDH gene to definitively diagnose D‑2‑hydroxyglutaric aciduria type 1, a rare autosomal recessive neurometabolic disorder. The assay covers the entire coding region plus ±10 bp splice sites, enabling detection of both common and novel pathogenic variants.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Single‑Variant) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% | ~80% (misses rare variants) |
| Gene Coverage | Full coding region ± 10 bp splice sites | Single known familial variant only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Type | Blood, Extracted DNA, or FTA Card | Blood only |
Physician Insight & Safety Protocols
“Every patient’s journey is unique; this genetic test provides a critical piece of your diagnostic puzzle, but it must be interpreted alongside your clinical symptoms and family history. I strongly recommend discussing the result with your specialist before making any health decisions.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your treating doctor. Abrupt changes may worsen metabolic stability.
Exclusion Criteria & ER Red Flags
- Exclusion: Samples collected during acute hemolytic crisis or within 4 weeks of a blood transfusion may compromise DNA quality; reschedule if clinically safe.
- Exclusion: Inadequate sample volume or improper FTA card storage (humidity, contamination) may lead to test rejection.
- Red Flag – Seek Emergency Care Immediately: Severe lethargy, uncontrollable seizures, intractable vomiting, or loss of consciousness – these may indicate an acute metabolic decompensation and require urgent hospital evaluation.
Patient FAQ & Clinical Guidance
1. What is D‑2‑hydroxyglutaric aciduria type 1 and why is genetic testing needed?
Answer: D‑2‑hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited neurometabolic disorder caused by mutations in the D2HGDH gene, leading to accumulation of neurotoxic D‑2‑hydroxyglutarate. Genetic testing confirms the diagnosis, guides treatment, and enables precise family counselling.
2. How is the sample collected and how long does it take to get results?
Answer: A small blood sample, extracted DNA, or a single drop of blood on an FTA card is collected by our certified phlebotomists during home collection. Results are delivered within 3 to 4 weeks using advanced NGS technology.
3. Is this test covered by insurance and what support is available?
Answer: We provide direct billing verification with major UAE insurance networks. Simply message us on WhatsApp at +971 54 548 8731 for a rapid pre‑authorization check before scheduling your appointment.
UAE Regulatory & Data Privacy Adherence
Accreditation: ISO 9001:2015 Quality Management System (Cert: INT/EGQ/2509DA/3139).
Compliance: All genetic testing strictly adheres to UAE 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.
Clinical & Logistical Metadata
| Test Name | D2HGDH Gene Next‑Generation Sequencing (NGS) for D‑2‑Hydroxyglutaric Aciduria Type 1 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD‑10‑CM Code | E72.8 |
| LOINC Code | 78014-4 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians