Test Price
2,800 AED✅ Home Collection Available
FH Gene Fumarase Deficiency Genetic Testing (NGS) – Dubai, UAE – 2,800 AED – DNA Labs UAE
Executive Summary & Core Metrics
Comprehensive NGS Analysis of the FH Gene – Diagnostic Accuracy 99.9%
- ✓ Full coding region analysis of the FH gene via Next-Generation Sequencing (NGS).
- ✓ Includes CNV detection for deletions/duplications.
- ✓ Turnaround: 3–4 weeks from sample receipt.
- ✓ Price: 2,800 AED – all-inclusive (genetic counselling, sample collection, report).
- ✓ Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM to 11 PM).
Test Overview & Methodology
This NGS panel targets the whole coding region of the fumarate hydratase (FH) gene, pinpointing pathogenic variants linked to fumarase deficiency (ICD‑10 E72.29) and hereditary cancer syndromes (HLRCC). The assay provides high-resolution sequence data including intronic flanking regions ±10 bp to detect splice‑site variants.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Standard Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with CNV detection | Sanger sequencing of selected exons |
| Coverage | 100% coding exons ±10 bp flanking intronic regions | 3–5 exons, mutation‑specific |
| Turnaround Time | 3–4 weeks | 5–6 weeks |
| Price | 2,800 AED | 3,200 AED |
| Diagnostic Yield | >95% for point mutations & exonic deletions | Limited to known familial mutations |
Physician Insight & Safety Protocols
“Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) emphasizes: This advanced NGS assay provides high‑resolution genotype data that must be correlated with biochemical and clinical findings. A negative result does not exclude deep intronic or epigenetic alterations; always integrate metabolic testing and genetic counselling. Please never adjust or discontinue any prescribed medication or metabolic emergency protocol based solely on this genetic report without consulting your supervising physician.”
Safety & Medication Advisory
⚠️ Important Safety Notice
Do not discontinue prescribed medication or alter dietary management without consulting your doctor. This test is intended as a supplementary diagnostic tool; it does not replace acute clinical evaluation. Per Federal Decree‑Law No. 4 of 2016 on Medical Liability, all clinical decisions must be made by the treating physician after full correlation of genetic results with the patient’s clinical status.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active febrile illness, haemodynamic instability, or current metabolic crisis requiring hospitalisation. Samples may be rejected if collected without cold‑chain protocol.
- Emergency Red Flags: If the patient develops acute encephalopathy, seizures, severe metabolic acidosis, or rapid neurological deterioration, seek immediate emergency medical attention – do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What does the FH gene NGS test detect and why is it important?
This test sequences the entire FH gene to identify DNA variants causing fumarase deficiency, a rare metabolic disorder, and hereditary cancer syndromes such as hereditary leiomyomatosis and renal cell cancer (HLRCC). Identification of pathogenic variants enables early diagnosis, family counselling, and targeted surveillance.
2. How is the sample collected and what preparation is required?
Sample collection is via standard blood draw (peripheral whole blood) using a sterile venipuncture kit. A DNA FTA card or previously extracted DNA is also acceptable. No special preparation (fasting) is required. However, a mandatory genetic counselling session is scheduled prior to sample collection to review family history and obtain informed consent.
3. Can children undergo this test and what are the UAE regulations?
Yes, the test can be performed on minors with parental/guardian consent and mandatory pre‑test genetic counselling. All procedures comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability and Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), alongside Dubai Health Authority guidelines for paediatric genetic testing.
4. How are results delivered and who interprets them?
A comprehensive clinical report is issued within 3–4 weeks. The report includes variant classification per ACMG/AMP guidelines and is signed by a DHA‑licensed consultant medical geneticist (Lina Osama Zaki Quteineh, DHA ID: 9294403). A complimentary telephonic post‑test counselling session is provided to discuss implications for the patient and family members.
UAE Regulatory & Data Privacy Adherence
- Licensed by Dubai Health Authority (DHA) under Facility License 1143.
- Physical Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- Laboratory operates under ISO 9001:2015 certified quality management system.
- Patient data protected per 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 testing safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- All genetic reports are reviewed and signed by a DHA‑licensed consultant medical geneticist (Lina Osama Zaki Quteineh, DHA ID: 9294403).
- Data retention and de-identification protocols align with DHA Circulars and international E‑A‑T guidelines for medical content.
Clinical & Logistical Metadata
| Test Name | FH Gene Full Sequencing (NGS) – Fumarase Deficiency & HLRCC Panel |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA), DNA FTA card, or extracted DNA (genomic) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina platform; CNV analysis included |
| ICD‑10‑CM Code | E72.29 (Other disorders of urea cycle metabolism – includes fumarase deficiency) |
| LOINC Code | 62324-8 (Fumarate hydratase gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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