Test Price
2,800 AED✅ Home Collection Available
OFD1 Gene Oral-Facial-Digital Syndrome Type 1 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين OFD1 لمتلازمة الفم والوجه والأصابع النوع الأول في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي – Executive Summary
يقدم هذا التحليل الجيني المتقدم باستخدام تقنية التسلسل من الجيل التالي (NGS) تقييماً شاملاً لجين OFD1 المرتبط بمتلازمة الفم والوجه والأصابع النوع الأول. يتم إجراء الفحص في مختبر معتمد وفق معايير ISO 9001:2015 وتحت إشراف هيئة الصحة بدبي (DHA)، مع خدمة سحب منزلي للمرضى في جميع إمارات الدولة.
نضمن دقة تشخيصية تصل إلى 99.9% مع استشارة وراثية متكاملة بعد النتيجة. للاستفسار عن التغطية التأمينية، يُرجى التواصل عبر واتساب على الرقم +971 54 548 8731.
Diagnostic Sensitivity
ISO-Accredited NGS Processing
Cold-Chain Home Collection
VIP Mobile Phlebotomy Service
Telephonic Clinical Guidance
DHA-Licensed Specialist Consultation
Direct Billing Verification
+971 54 548 8731
Test Overview & Clinical Utility
The OFD1 Gene Genetic Test is a high-resolution diagnostic assay that sequences the entire coding region of the OFD1 gene located on the X chromosome (Xp22.2), identifying pathogenic variants responsible for Oral-Facial-Digital Syndrome Type 1 — a rare X-linked dominant ciliopathy characterized by malformations of the oral cavity, face, digits, and central nervous system. يكشف تحليل جين OFD1 عن الطفرات المسببة لمتلازمة الفم والوجه والأصابع بدقة عالية.
This test serves neurologists, clinical geneticists, and pediatricians in establishing a molecular diagnosis, guiding clinical management, and enabling informed genetic counseling for affected families across the UAE.
| Parameter | Our OFD1 NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Technology | NGS (Next-Generation Sequencing) – Full Gene Coverage | Sanger Sequencing – Exon-by-Exon Only |
| Detection Rate | >99% Coding Variants incl. Deep Intronic Splice Sites | ~90% – Misses Large Deletions & Mosaicism |
| Turnaround Time | 3–4 Weeks | 6–12 Weeks (Sequential Exon Processing) |
| Sample Types | Whole Blood / Extracted DNA / FTA Card (Dried Blood Spot) | Whole Blood Only (Higher Volume Required) |
| Clinical Reporting | ACMG-Compliant Variant Classification + Genetic Counseling | Basic Variant Call – Limited Interpretation |
| Price (AED) | 2,800 | ~3,500–4,200 |
Physician Insight & Clinical Correlation
Dr. Prabhakar Reddy, DHA License: 61713011
Consultant Neurologist & Genetic Medicine Specialist
"The OFD1 gene test is a lifeline for families navigating diagnostic uncertainty. I have witnessed how a confirmed molecular diagnosis transforms clinical management — from anticipatory surveillance for renal and neurological complications to precise family planning. Please understand that this test identifies genetic variants; clinical correlation with physical findings and imaging is essential. No genetic result stands alone — it is interpreted within the full context of the patient's clinical presentation and family history."
Medication Advisory
Do not discontinue prescribed medication — particularly anti-epileptic drugs, neurotropic agents, or any chronic therapy — without consulting your treating physician. This genetic test does not replace ongoing clinical management.
Safety Protocol & Exclusion Criteria
- • Exclusion: Individuals unable to provide informed consent or lacking a legal guardian (as per UAE CDS Law 2026 for minors).
- • Exclusion: Inadequate sample integrity — hemolyzed blood, improperly stored FTA cards, or degraded extracted DNA.
- • ER Red Flag: Seek immediate emergency care if the patient experiences new-onset seizures, acute respiratory distress, or signs of raised intracranial pressure (severe headache with vomiting and visual disturbance).
- • ER Red Flag: Infants with suspected OFD1 presenting with feeding difficulties and cyanotic episodes require urgent pediatric assessment.
- • Mandatory: A pre-test genetic counseling session is required to document a three-generation pedigree and ensure informed decision-making.
Pre-Test Requirements & Sample Collection Logistics
A mandatory Genetic Counseling Session must be completed prior to sample collection. During this session, a certified genetic counselor will construct a detailed pedigree chart documenting all family members affected by or suspected of having Oral-Facial-Digital Syndrome Type 1. This step ensures accurate risk assessment and appropriate test interpretation.
Accepted Sample Types:
- • Whole Blood (EDTA tube, 3–5 mL)
- • Extracted DNA (minimum 1 µg, A260/A280 ratio 1.8–2.0)
- • FTA Card (one drop of blood, properly dried and sealed)
Collection Notes:
- • No fasting required
- • No medication adjustments needed prior to draw
- • Cold-chain transport maintained at 2–8°C for blood samples
- • FTA cards must be stored at room temperature in a dry environment
Patient FAQ & Clinical Guidance
1. What does the OFD1 gene test diagnose, and who should consider it?
Snippet: The OFD1 Genetic Test diagnoses Oral-Facial-Digital Syndrome Type 1 — a rare X-linked dominant ciliopathy — by detecting pathogenic variants in the OFD1 gene with 99.9% diagnostic sensitivity.
This test is indicated for individuals presenting with characteristic features including oral frenula and clefting, facial dysmorphism (hypertelorism, facial asymmetry), digital anomalies (brachydactyly, syndactyly, polydactyly), and neurological involvement such as intellectual disability or structural brain malformations. It is also recommended for at-risk female relatives of affected individuals, given the X-linked dominant inheritance pattern with male lethality in most cases.
ما هو تحليل جين OFD1 ومن يجب عليه إجراؤه؟
يكتشف تحليل جين OFD1 الطفرات المسببة لمتلازمة الفم والوجه والأصابع النوع الأول، ويُنصح به للأفراد الذين يعانون من تشوهات فموية ووجهية ورقمية وعصبية، ولأقارب الإناث المعرضات للخطر.
2. How is the OFD1 genetic test performed and what is the turnaround time?
Snippet: The test analyzes the complete OFD1 gene coding region using Next-Generation Sequencing technology from a blood sample, extracted DNA, or FTA card, with results delivered in 3 to 4 weeks.
Our certified phlebotomy team performs home collection across all UAE emirates between 8 AM and 11 PM using ISO-certified cold-chain logistics. The sample undergoes DNA extraction, library preparation, and high-depth NGS sequencing on validated platforms. Variants are classified according to ACMG/AMP guidelines, and a comprehensive clinical report is issued following dual-review by a molecular geneticist and a consultant neurologist.
كيف يتم إجراء تحليل جين OFD1 وما هي مدة الحصول على النتائج؟
يتم سحب العينة منزلياً عبر فريق تمريض معتمد، وتُحلل باستخدام تقنية التسلسل الجيني المتقدم (NGS)، وتصدر النتائج خلال 3 إلى 4 أسابيع مع تقرير سريري شامل.
3. What happens after I receive my OFD1 genetic test result?
Snippet: Following your OFD1 test result, you receive a complimentary telephonic post- clinical guidance session with a DHA-licensed specialist to interpret findings and plan next steps.
A positive result confirms the molecular diagnosis and enables targeted clinical management including renal ultrasound surveillance, neurological follow-up, and multidisciplinary care coordination. A negative result may warrant further investigation through broader genetic testing such as whole exome sequencing. All results are discussed in the context of your family pedigree and clinical phenotype. Genetic counseling for family members is recommended, particularly for female relatives of childbearing age.
ماذا يحدث بعد الحصول على نتيجة تحليل جين OFD1؟
بعد صدور النتيجة، تحصل على جلسة استشارة سريرية هاتفية مجانية مع أخصائي معتمد من هيئة الصحة بدبي لتفسير النتائج وتخطيط الخطوات العلاجية والوقائية اللازمة.
UAE Regulatory Compliance
Federal Decree-Law No. 41 of 2024 (Art. 87) • CDS Law 2026 (Minors Protection) • UAE PDPL (Data Privacy) • DHA Facility License: 9834453
Quality Accreditation
ISO 9001:2015 Certified • Cert: INT/EGQ/2509DA/3139 • ACMG/AMP Variant Classification Standards • CLIA-Compliant Laboratory Processing
Contact & Support
WhatsApp: +971 54 548 8731 • Home Collection: 8 AM – 11 PM Daily • All UAE Emirates Covered • Direct Insurance Billing Available
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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