Test Price
2,800 AED✅ Home Collection Available
FH Gene Fumarase Deficiency Genetic Test in UAE | 2800 AED | Dubai Healthcare City
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by a DHA-licensed Genetic Counselor.
- Direct Billing: Insurance verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FH Gene Fumarase Deficiency Genetic Test is a comprehensive next‑generation sequencing analysis of the entire fumarate hydratase (FH) gene, detecting single nucleotide variants, small insertions/deletions, and copy number variations. This advanced molecular test provides a definitive molecular diagnosis for fumarase deficiency—a rare inborn error of the Krebs cycle—guiding clinical management, family planning, and genetic counseling.
| Parameter | Our Test (NGS) | Closest Alternative (Enzyme Assay) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full FH gene coding exons & ±5 bp splice sites | Spectrophotometric fumarase activity in cultured skin fibroblasts |
| Detection Range | Point mutations, indels, copy number variations, deep intronic variants (if panel designed) | Only functional enzyme deficiency; cannot identify specific mutation |
| Analytical Sensitivity | >99.9% | ~80% |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Sample Type | Whole Blood (EDTA) / Extracted DNA / FTA Card | Skin Biopsy (cultured fibroblasts) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that accurate molecular diagnosis of fumarase deficiency requires integration of clinical history, biochemical markers (e.g., urinary fumarate), and pedigree analysis. The NGS-based FH gene test provides high sensitivity, but results must always be interpreted in the clinical context. Pre‑ and post‑test genetic counseling is essential for informed decision‑making.”
— Lina Osama Zaki Quteineh
Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication & Dietary Precautions
⚠️ Important:
Do not discontinue any prescribed medication or dietary therapy (e.g., ketogenic diet, anti‑epileptic drugs) without consulting your physician. Abrupt cessation may trigger metabolic decompensation. This test is elective and not intended for acute management.
Exclusion Criteria & Emergency Red Flags
- Recent whole blood transfusion (within 4 weeks) may introduce donor DNA, skewing results.
- Prior allogeneic hematopoietic stem cell transplant; donor‑derived leukocytes can mask the patient’s genotype.
- Not validated for prenatal diagnosis without a matched invasive sample (chorionic villus/amniocytes).
🚨 Seek immediate emergency care if the patient develops acute neurological deterioration (seizures, lethargy, hypotonia), severe vomiting, or signs of metabolic acidosis. This is an elective diagnostic test and not for acute crisis management.
Patient FAQ & Clinical Guidance
1. What is fumarase deficiency, and what symptoms should prompt testing?
Fumarase deficiency is a rare autosomal recessive disorder of the Krebs cycle caused by FH gene mutations, leading to infantile encephalopathy, seizures, and developmental delay. Additional features may include microcephaly, hypotonia, and elevated urinary fumarate. Testing is warranted in any infant or child presenting with unexplained neurologic regression and metabolic acidosis.
2. How long until I receive my results?
Your FH gene NGS report will be available within 3–4 weeks from sample acceptance, encompassing variant interpretation and clinical annotation. The report is issued through our secure patient portal, and a telephonic post‑test guidance session is scheduled with a genetic counselor to explain findings and next steps.
3. Is genetic counseling mandatory for this test?
Yes, pre‑test and post‑test genetic counseling sessions are required to ensure informed consent, pedigree analysis, and appropriate result disclosure. Genetic counseling helps families understand the inheritance pattern, recurrence risk, and reproductive options. A counseling session with a DHA‑licensed genetic counselor is arranged prior to sample collection.
Pre‑Requirements: Clinical history of the patient, along with a genetic counseling session to draw a pedigree chart of family members affected with fumarase deficiency, is strongly recommended. For home collection, a VIP phlebotomist will obtain the appropriate sample (blood/FTA card) using cold‑chain protocols.
Support: WhatsApp & Phone: +971 54 548 8731
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA). All personal data is processed in accordance 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. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and holds DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | FH Gene Fumarase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) / Extracted DNA / FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) – full FH gene coding exons & splice site regions |
| ICD-10-CM Code | E74.8, R90.0 |
| LOINC Code | 91846-4 |
| DHA Facility License & Laboratory Address | License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE · Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians