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Test Price

2,800 AED

✅ Home Collection Available

IDH2 Gene D‑2‑Hydroxyglutaric Aciduria Type 2 Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing.

Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM).

Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation by DHA‑qualified genetic counsellors.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The IDH2 Gene NGS Test detects pathogenic variants underlying D‑2‑hydroxyglutaric aciduria type 2, a rare neurometabolic disorder, using comprehensive next‑generation sequencing with 99.9% sensitivity. This molecular analysis reads the entire coding region of the IDH2 gene to identify single‑nucleotide variants, insertions/deletions, and copy‑number variants, providing a definitive molecular diagnosis for patients with clinical suspicion.

Feature Our Test (NGS Full‑Gene Analysis) Closest Alternative (Biochemical / Targeted Single‑Gene)
Precision 99.9% sensitivity; detects all mutation types (SNVs, indels, CNVs) Limited to known hotspots; misses rare variants
Methodology NGS with full gene coverage Sanger sequencing of selected exons or urinary organic acid analysis
Turnaround Time 3 to 4 Weeks from sample receipt 4–6 Weeks for Sanger; 2–3 Weeks for metabolite assay (less specific)
Diagnostic Utility Definitive molecular diagnosis, carrier testing, and family screening Only biochemical suspicion; cannot distinguish all types

Physician Insight & Safety Protocols

“Genetic results are just one piece of the clinical puzzle. I always urge patients and their physicians to interpret these findings alongside a thorough metabolic workup and family history. A negative NGS panel does not exclude all genetic etiologies, and a variant of uncertain significance requires expert correlation before any treatment change.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics — DHA Registration ID: 9294403

⚕️ Medication Warning

Do not discontinue any prescribed medication or start new supplements without consulting your treating physician. This test does not replace emergency clinical assessment.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Inadequate sample (haemolysed, clotted, or insufficient DNA); inability to obtain informed consent. Minors: In accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, genetic testing of minors requires documented parental consent and clinical justification.
  • ER Red Flags: If the patient experiences acute vomiting, lethargy, hypotonia, seizures, or loss of consciousness — suspend all non‑emergent testing and seek immediate emergency medical care. Do not wait for test results.

Patient FAQ & Clinical Guidance

1. What is the IDH2 gene test and why is it needed?

The IDH2 gene test detects mutations causing D‑2‑hydroxyglutaric aciduria type 2, a rare neurometabolic disorder. This NGS‑based analysis reads the entire coding region of the IDH2 gene to identify pathogenic variants linked to the condition. It is recommended for individuals with clinical signs such as developmental delay, epilepsy, or abnormal brain MRI findings suggestive of the disease, as well as for at‑risk family members seeking carrier screening.

2. How is the sample collected and is the procedure safe?

A peripheral whole blood sample (EDTA tube) or a buccal swab is collected by a certified phlebotomist during a VIP mobile home visit. The sterile, single‑use kit ensures DNA extraction quality. The sample is transported in an ISO‑certified cold‑chain transporter. The procedure is painless and meets all DHA and MOHAP safety standards.

3. How long do the results take and what happens after?

Results are typically reported within 3 to 4 weeks after the laboratory receives your sample. Once ready, a board‑certified genetic counsellor contacts you for a confidential telephone consultation to explain the report, discuss implications, and recommend any necessary follow‑up. You may also share the results directly with your referring physician.

UAE Regulatory & Data Privacy Adherence

This test is performed in full compliance with 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. All patient data is encrypted, stored securely, and processed with explicit consent. Results are shared only with the ordering physician and the patient or legal guardian as per UAE health information governance standards.

Clinical & Logistical Metadata

Test Name IDH2 Gene NGS Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3 to 4 weeks from sample receipt
Sample Type / Matrix Peripheral whole blood (EDTA) or Buccal swab
Methodology Used Next-Generation Sequencing (NGS) with full gene coverage
ICD-10-CM Code E72.52
LOINC Code 92894-3
DHA Facility License & Laboratory Address DHA Facility License No. 1143
Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Corporate Lab: DNA Labs UAE

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