Test Price
2,800 AED✅ Home Collection Available
FH Gene Fumarase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين FH لنقص الفوماريز في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by a DHA-licensed Genetic Counselor.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
اختبار جيني متقدم بتقنية التسلسل الجيني من الجيل التالي (NGS) لتشخيص نقص إنزيم الفوماريز (Fumarase Deficiency) الناجم عن طفرات جين FH. يحقق حساسية تشخيصية تصل إلى 99.9% وفقًا لمعايير الآيزو 9001:2015.
Test Overview
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.
يُعد هذا الفحص التشخيص الجزيئي الدقيق للكشف عن الطفرات المسببة لنقص الفوماريز.
| 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 / DNA FTA Card | Skin Biopsy (cultured fibroblasts) |
Physician Insight & Safety Protocol
“As a clinician, I understand the emotional weight of seeking a genetic diagnosis for a suspected metabolic disorder. While this test provides high‑yield molecular insights, its results must be correlated with clinical findings, biochemical markers (urinary fumarate, Krebs cycle intermediates), and family history. No single laboratory value replaces comprehensive clinical judgement.”
— Dr. PRABHAKAR REDDY
DHA License: 61713011
⚠️ Medication Warning:
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.
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
Q1: 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.
ما هو نقص الفوماريز وما الأعراض التي تستدعي الفحص؟
نقص الفوماريز هو اضطراب وراثي نادر في دورة كريبس ينتج عن طفرات جين FH، ويؤدي إلى اعتلال دماغي رضيعي، تشنجات، وتأخر نمائي.
Q2: 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.
كم من الوقت يستغرق صدور النتائج؟
سيكون تقرير تحليل جين FH بتقنية NGS متاحًا خلال 3 إلى 4 أسابيع من استلام العينة، مع جلسة تفسير للنتائج عبر الهاتف.
Q3: 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 professional is arranged prior to sample collection.
هل الاستشارة الوراثية إلزامية لهذا التحليل؟
نعم، جلسات الاستشارة الوراثية قبل وبعد الفحص ضرورية لضمان الموافقة المستنيرة ورسم شجرة العائلة وتفسير النتائج بشكل مناسب.
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/FTATM card) using cold‑chain protocols.
Support: WhatsApp & Phone: +971 54 548 8731
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians