Test Price
2,800 AED✅ Home Collection Available
GNAI3 Gene Auriculocondylar Syndrome Type 1 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين GNAI3 لمتلازمة الأذن الوتدي اللقماني من النوع 1 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary الملخص التنفيذي
يوفر هذا الاختبار الجيني المتقدم، المعتمد من هيئة الصحة بدبي (DHA)، تشخيصاً دقيقاً لمتلازمة الأذن الوتدي اللقماني من النوع 1 الناتجة عن طفرات في جين GNAI3، مع خدمة سحب منزلي آمنة واستشارة وراثية متخصصة بعد الفحص. دقة تحليلية تصل إلى 99.9% عبر تقنية التسلسل الجيني (NGS) تحت شهادة ISO 9001:2015.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8am – 11pm).
- Clinical Guidance: Complimentary Post-Test Telephonic Guidance with a DHA-Licensed Genetic Counselor.
- Insurance & Billing: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Overview
This next-generation sequencing (NGS) test analyzes the entire GNAI3 gene to identify pathogenic variants underlying Autosomal Dominant Auriculocondylar Syndrome Type 1 (ACS1). ACS1 is a rare dysmorphology disorder characterized by distinctive ear malformations (question-mark ears), micrognathia, and condylar hypoplasia. يُساعد هذا التحليل أطباء الأطفال وأخصائيي الوراثة السريرية على تأكيد التشخيص وتوجيه الإدارة الطبية والاستشارة الوراثية العائلية.
| Feature | Our Test (GNAI3 NGS) | Closest Alternative (Targeted Sanger) |
|---|---|---|
| Methodology | Full gene NGS with CNV detection | Single exon/amplicon Sanger sequencing |
| Diagnostic Yield | 99.9% for point mutations & small indels | ~80–90% (misses deep intronic/CNV) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Options | Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Blood only (venipuncture) |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA: 61713011): “A positive GNAI3 result confirms the molecular diagnosis, but clinical correlation is paramount – a negative result does not exclude other genetic craniofacial syndromes. I encourage families to use this information for proactive multidisciplinary care planning, and always combine results with a detailed pedigree and genetic counselling. We are committed to supporting you with empathetic, evidence-based guidance every step of the way.”
⚕️ Medication Warning: Do not discontinue any prescribed medication or alter treatment plans based solely on this test result. Always consult your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a valid biological sample (e.g., severe anemia, contaminated specimen), lack of informed consent, or absence of a responsible guardian (for minors). Prenatal diagnosis requires separate, specialized genetic counselling.
- ER Red Flags: If the patient exhibits acute respiratory distress, cyanosis, or signs of airway compromise due to severe micrognathia, seek immediate emergency medical care. These symptoms are unrelated to the test but may co‑occur with the condition.
- Data Privacy: All genetic data is handled strictly in accordance with UAE PDPL and Federal Decree-Law No. 41 of 2024, Article 87.
Patient FAQ & Clinical Guidance
Q1: What is the GNAI3 Auriculocondylar Syndrome Type 1 Genetic Test?
Snippet: This advanced genetic test sequences the entire GNAI3 gene to detect pathogenic mutations causing Auriculocondylar syndrome type 1, a rare craniofacial disorder with distinctive ear and jaw anomalies.
The test uses Next-Generation Sequencing on blood, extracted DNA, or a dried blood spot to identify single nucleotide variants, small insertions/deletions, and copy number changes. It is essential for confirming a clinical suspicion in children and adults with dysmorphic features.
س1: ما هو اختبار الحمض النووي لجين GNAI3 لمتلازمة الأذن الوتدي اللقماني من النوع 1؟
ملخص: يقوم هذا الاختبار الجيني المتقدم بتسلسل جين GNAI3 بالكامل لاكتشاف الطفرات المسببة لمتلازمة الأذن الوتدي اللقماني من النوع 1، وهي اضطراب نادر في الوجه والفك.
Q2: Who should consider taking this test?
Snippet: Infants, children, or adults presenting with question-mark ears, micrognathia, and feeding difficulties should undergo this test after a clinical genetics evaluation.
Referring specialists – clinical geneticists, pediatricians, neonatologists, and maxillofacial surgeons – typically order it when ACS1 is suspected based on physical examination and imaging. It is also recommended for family members of a confirmed proband for cascade testing.
س2: من هو الشخص المناسب لإجراء هذا الاختبار؟
ملخص: يجب أن يخضع له الرضّع والأطفال والبالغون الذين تظهر عليهم أذن على شكل علامة استفهام وصغر الفك السفلي مع صعوبات في التغذية بعد تقييم سريري وراثي متخصص.
Q3: How is the sample collected and how long do results take?
Snippet: A certified phlebotomist collects a blood sample or a painless finger-prick dried blood spot during a home visit, with results delivered in 3 to 4 weeks.
You can also submit extracted DNA. Our cold-chain logistics maintain sample integrity from collection to sequencing. Once analysed, a comprehensive report is provided, and a post- genetic counselling session explains the findings in plain language.
س3: كيف يتم جمع العينة وكم يستغرق ظهور النتائج؟
ملخص: يقوم فني معتمد بسحب عينة دم أو بقعة دم جافة من طرف الإصبع خلال زيارة منزلية، وتظهر النتائج خلال 3 إلى 4 أسابيع.
🔒 Fully compliant with UAE PDPL, Federal Decree‑Law No. 41 of 2024 (Art. 87), and CDS Law 2026 (Minors Protection).
🧬 ISO 9001:2015 Certified ‑ Cert: INT/EGQ/2509DA/3139. DHA Facility License: 9834453. LOINC: 81221-0
📞 Immediate Support & Booking: WhatsApp +971 54 548 8731 | Emergency? Call 998 or visit nearest ER.
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