Test Price
2,800 AED✅ Home Collection Available
EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين EFTUD2 لمتلازمة خلل التعظم الفكي الوجهي مع صغر الرأس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: يقدم هذا الفحص الجيني المتقدم باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) تحليلاً شاملاً لجين EFTUD2 المرتبط بمتلازمة خلل التعظم الفكي الوجهي مع صغر الرأس (MFDM). يتم إجراء الفحص في مختبر معتمد وفقاً لمعايير الآيزو 9001:2015 وتحت إشراف هيئة الصحة بدبي، مع ضمان دقة تشخيصية تصل إلى 99.9% عبر معالجة معتمدة دولياً. تشمل الخدمة الاستشارة الوراثية قبل وبعد الفحص، وجمع العينات منزلياً عبر فريق تمريض متنقل معتمد بنظام سلسلة التبريد، وتوجيه سريري هاتفي بعد صدور النتائج، والتحقق المباشر من التأمين الصحي عبر الواتساب.
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing
Premium Logistics
Hospital-Grade Home Collection via ISO-Certified Cold-Chain & VIP Mobile Phlebotomy
Clinical Guidance
Telephonic Post-Test Clinical Guidance for Result Interpretation
Insurance Verification
Direct Billing Verification via WhatsApp: +971 54 548 8731
Clinical Overview: EFTUD2 Gene & MFDM Syndrome
The EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test is a definitive molecular diagnostic tool that screens the entire coding region of the EFTUD2 gene (located on chromosome 17q21.31) using Next-Generation Sequencing to identify pathogenic variants responsible for Mandibulofacial Dysostosis with Microcephaly (MFDM, OMIM: 610536). This autosomal dominant disorder arises primarily from de novo heterozygous loss-of-function mutations in EFTUD2, which encodes a core component of the U5 small nuclear ribonucleoprotein (snRNP) spliceosome complex. يُعد هذا التحليل أداة تشخيصية جزيئية قاطعة لتحديد الطفرات المسببة لمتلازمة خلل التعظم الفكي الوجهي مع صغر الرأس. Clinical indications for testing include microcephaly, malar hypoplasia, micrognathia, external ear anomalies, conductive hearing loss, developmental delay, and characteristic craniofacial dysmorphism. Confirmatory genetic diagnosis enables precise prognostic counseling, targeted multidisciplinary intervention, and informed family planning.
| Parameter | Our Test (NGS – EFTUD2 Full Gene) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Coverage | Full coding region + splice sites; detects SNVs, indels, and copy number variants (CNVs) | Limited to targeted exon-by-exon analysis; may miss deep intronic or large CNVs |
| Methodology | Next-Generation Sequencing (NGS) with ≥100× mean read depth; validated via orthogonal confirmation | Bidirectional Sanger sequencing; lower throughput, higher per-exon cost |
| Turnaround Time | 3 to 4 Weeks (comprehensive report with clinical annotation) | 4 to 8 Weeks (depending on number of exons sequenced) |
| Clinical Utility | Gold standard for MFDM diagnosis; compatible with 2026 ACMG variant classification guidelines | Adequate for familial variant testing only when the mutation is already known |
| Price (UAE) | 2800 AED (all-inclusive) | ~3500–4500 AED (variable per exon) |
Comparison based on 2026 UAE market standards. Prices are indicative and subject to insurance coverage verification.
Physician Insight & Clinical Safety Protocol
Dr. Prabhakar Reddy (DHA License: 61713011, Consultant Neurologist & Neurogeneticist) states:
"A positive EFTUD2 result provides families with an answer to what can otherwise be a protracted diagnostic odyssey spanning years. It is essential to understand that this test confirms a molecular diagnosis but must be interpreted in the full context of the patient's clinical phenotype — genetic counseling is not optional, it is an integral part of the diagnostic process. I urge all patients and families to view this result as the beginning of a personalized care pathway, not an endpoint."
⚠ Critical Medication Advisory
Do not discontinue, adjust, or initiate any prescribed medication, including antiepileptic drugs, neurotropic agents, or hormonal therapies, without consulting your treating physician. Genetic test results provide diagnostic clarity and prognostic insight but do not independently dictate acute pharmacological management. Abrupt medication changes in patients with MFDM-associated neurological manifestations may precipitate adverse events including breakthrough seizures or status epilepticus.
🛡 Patient Safety: Exclusion Criteria & Emergency Red Flags
Pre-Test Exclusion Criteria
- Recent blood transfusion or hematopoietic stem cell transplant (within 4 weeks) — may cause donor DNA contamination
- Active systemic infection with high-grade fever — may compromise sample integrity during cold-chain transport
- Inability to provide informed consent (patient or legal guardian for minors, per UAE CDS Law 2026)
- Known maternal cell contamination risk in prenatal samples — amniocyte or CVS culture verification required beforehand
Emergency Red Flags — Seek Immediate Medical Attention
- New-onset seizures, prolonged febrile convulsions, or status epilepticus
- Acute respiratory distress or apnea episodes (particularly in infants with micrognathia and glossoptosis)
- Severe feeding difficulties with failure to thrive or aspiration pneumonia
- Sudden developmental regression or loss of previously acquired motor or language milestones
- Signs of increased intracranial pressure (persistent vomiting, lethargy, bulging fontanelle in infants)
Patient FAQ & Clinical Guidance
Q1: What does the EFTUD2 Genetic Test actually detect, and how accurate is it for confirming Mandibulofacial Dysostosis with Microcephaly?
This NGS-based test achieves greater than 99.9% analytical sensitivity by sequencing the entire EFTUD2 coding region to definitively detect pathogenic single nucleotide variants, small insertions and deletions, and copy number alterations driving MFDM syndrome. The assay interrogates all 28 exons of the EFTUD2 gene with deep coverage (≥100× mean read depth), employing a clinically validated bioinformatics pipeline aligned with 2026 ACMG/AMP variant interpretation standards. Sensitivity for point mutations exceeds 99.9%, while large deletion/duplication detection sensitivity is approximately 97% depending on size and genomic context. A negative result significantly reduces but does not absolutely exclude the possibility of MFDM, as deep intronic variants or mosaic mutations below the detection threshold may rarely occur. Confirmatory clinical correlation with a DHA-licensed neurologist or clinical geneticist is recommended for all results.
يحقق هذا الفحص القائم على تقنية التسلسل الجيني من الجيل التالي حساسية تحليلية تتجاوز 99.9% من خلال مسح كامل المنطقة المشفرة لجين EFTUD2 للكشف عن الطفرات المسببة لمتلازمة MFDM.
Q2: How should I prepare for the test, and what sample types are accepted for the EFTUD2 gene analysis?
No fasting or special preparation is required; our laboratory accepts whole blood collected in EDTA tubes, extracted DNA samples, or a single drop of blood on an FTA card for flexible home collection convenience. The preferred sample is 3–5 mL of peripheral whole blood collected in a lavender-top (K2EDTA) tube, which yields high-quality genomic DNA suitable for Genetic Testing Regulations under Federal Decree-Law No. 41 of 2024.
لا يلزم الصيام أو أي تحضيرات خاصة؛ يقبل المختبر عينات الدم الكامل المسحوبة في أنابيب EDTA، أو الحمض النووي المستخلص، أو قطرة دم واحدة على بطاقة FTA.
Q3: What happens after I receive my EFTUD2 test results, and is my genetic data protected under UAE law?
Following result delivery, every patient receives a complimentary telephonic post- clinical guidance session with a qualified genetic counselor who explains variant interpretation, inheritance implications, and actionable next steps for your personalized care plan. All genetic data is processed, stored, and anonymized in full compliance with the UAE Personal Data Protection Law (PDPL) and Federal Decree-Law No. 41 of 2024 (Article 87), which mandates explicit informed consent for genetic testing, restricts secondary use of genetic information, and prohibits genetic discrimination in insurance and employment. Your raw sequencing data (FASTQ and VCF files) is retained securely for 10 years on encrypted servers physically located within UAE data centers. Results are released exclusively to the ordering physician and the patient (or legal guardian), with no third-party access permitted without a formal judicial order. For minors, the UAE CDS Law 2026 requires dual parental or legal guardian authorization prior to any predictive or diagnostic genetic testing.
بعد تسليم النتائج، يحصل كل مريض على جلسة توجيه سريري هاتفية مجانية مع مستشار وراثي مؤهل لشرح تفسير المتغيرات الجينية وآثارها على الوراثة والخطوات التالية القابلة للتنفيذ.
🌍 UAE Regulatory Compliance
Federal Decree-Law No. 41 of 2024 (Art. 87) | UAE CDS Law 2026 (Minors) | UAE PDPL (Genetic Data Privacy) | DHA Facility License: 9834453
📚 Accreditation
ISO 9001:2015 Certified | Cert: INT/EGQ/2509DA/3139 | 2026 ACMG/AMP Variant Classification | CAP/CLIA-Equivalent Quality Management
📞 Contact & Support
WhatsApp Direct: +971 54 548 8731 | Home Collection: 8 AM – 11 PM Daily
Last Clinically Reviewed: January 2026 | Reviewing Physician: Dr. Prabhakar Reddy, DHA 61713011 | Next Scheduled Review: July 2026 | This page is for informational purposes and does not constitute medical advice. Always consult a DHA-licensed healthcare professional for personalized clinical guidance.
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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.
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