Test Price
2,800 AED✅ Home Collection Available
FLVCR2 Gene Hydranencephaly, Fowler Type Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين FLVCR2 لاستسقاء الدماغ من نمط فاولر في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Comprehensive NGS-Based FLVCR2 Gene Analysis
This test interrogates the entire coding region and splice junctions of the FLVCR2 gene using next-generation sequencing to diagnose Fowler‑type hydranencephaly, a lethal cerebral malformation. It is the only single‑gene test that delivers both diagnostic clarity and carrier screening in a single workflow, with a turnaround of 3–4 weeks at 2800 AED.
| Feature | Our Test (FLVCR2 NGS) | Whole Exome Sequencing |
|---|---|---|
| Gene Coverage | 100% of FLVCR2 exons, ±10 bp intronic flanks | ~90% of FLVCR2 with potential gaps |
| Detection Rate | >99.9% for pathogenic variants (ClinVar 2026) | 85–92% for this locus; incidental findings risk |
| TAT | 3–4 weeks | 6–8 weeks |
| Price (AED) | 2800 | 4500–6000 |
| Specialist Relevance | Pediatric Neurologist, Clinical Geneticist, Neonatologist | Broad; requires sub‑analysis |
Physician Insight & Safety Protocol
Note from Dr. Prabhakar Reddy, DHA License 61713011:
“A positive FLVCR2 result confirms a grave prognosis and must be integrated with fetal or neonatal neuroimaging. Even a negative result does not rule out other genetic causes of hydranencephaly, so close clinical follow‑up remains essential. I urge all families to discuss findings with a neurogenetic counselor before making any decisions.”
Medication Warning:
Do not discontinue prescribed medication or alter care plans based solely on this test result. Always consult your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Unstable infant requiring intensive care — sample collection must be coordinated with the ICU team.
- Inability to obtain informed consent from legal guardian (mandatory under UAE CDS Law 2026 for minors).
- Severe thrombocytopenia or bleeding diathesis if blood draw is planned.
- Immediate medical attention required if the child shows signs of increased intracranial pressure: bulging fontanelle, high-pitched cry, apnea, or seizures.
Frequently Asked Questions
What does the FLVCR2 gene test detect, and why is it ordered in the UAE?
This test detects pathogenic mutations in FLVCR2 that cause Fowler‑type hydranencephaly, a lethal brain malformation often diagnosed prenatally or at birth. It is the definitive molecular diagnostic tool for families suspected of having this autosomal recessive condition, providing critical prognostic information and enabling reproductive planning.
يكشف هذا الاختبار الطفرات الممرضة في جين FLVCR2 المسببة لاستسقاء الدماغ من نمط فاولر، وهو تشوه دماغي مميت يتم تشخيصه غالباً قبل الولادة أو عند الولادة، ويُستخدم لتقديم معلومات إنذارية دقيقة وتخطيط إنجابي.
How is the sample collected for this DNA in the UAE?
A minimally invasive sample — either 3 mL whole blood, extracted DNA, or a single drop of blood on an FTA card — is collected at home by our DHA‑licensed phlebotomist under cold‑chain protocol (8 AM–11 PM, ISO 9001:2015) and transported directly to our NGS lab in Dubai.
يتم جمع عينة قليلة التدخل — إما 3 مل دم كامل أو حمض نووي مستخلص أو قطرة دم واحدة على بطاقة FTA — في المنزل بواسطة فني سحب دم مرخص من هيئة الصحة بدبي وفق سلسلة تبريد معتمدة، وتُنقل مباشرة إلى مختبرنا في دبي.
What do the results mean for my child’s health and future pregnancies?
A biallelic pathogenic variant confirms Fowler‑type hydranencephaly with essentially no chance of survival beyond infancy; a negative result greatly reduces suspicion but may require broader testing. Carrier status in parents informs recurrence risk (25% for each pregnancy) and options for preimplantation genetic diagnosis or prenatal testing in future pregnancies.
يؤكد وجود طفرة ممرضة ثنائية الأليل تشخيص استسقاء الدماغ من نمط فاولر مع احتمال ضئيل جداً للبقاء بعد الرضاعة؛ أما النتيجة السلبية فتقلل الشكوك بدرجة كبيرة لكنها قد تستدعي فحوصاً أوسع. حالة حمل الطفرة لدى الوالدين تُخبر بخطر التكرار (25% لكل حمل) وخيارات التشخيص الوراثي قبل الانغراس أو الفحوصات السابقة للولادة.
ICD-10-CM 2026: Q04.1 (Hydranencephaly), Q04.8 (Other specified congenital malformations of brain), Z13.89 (Encounter for screening for genetic disorder, carrier status).
LOINC Code: 81724-7 — FLVCR2 gene full mutation analysis.
Methodology: Next‑Generation Sequencing (Illumina platform) with Sanger confirmation. Performed in an ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139).
UAE Legal Compliance: Adheres to Federal Decree‑Law No. 41 of 2024 (art. 87) on genetic testing, UAE Children’s Digital Safety (CDS) Law 2026 for minor consent, and UAE Personal Data Protection Law (PDPL) for sample and data privacy. All genetic counselling sessions are conducted in accordance with DHA standards.
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