Test Price
2,800 AED✅ Home Collection Available
ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ROGDI لمتلازمة كولشوتر-تونز في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي 2026
Test Price
2800 AED
TAT: 3–4 Weeks
Executive Summary
The ROGDI Gene NGS Test utilises Next-Generation Sequencing technology to detect pathogenic variants in the ROGDI gene associated with Kohlschütter-Tönz Syndrome — a rare autosomal recessive disorder characterised by amelogenesis imperfecta, early-onset epilepsy, and progressive intellectual disability. This ISO 9001:2015-certified assay delivers 99.9% diagnostic sensitivity with complete exon coverage, processed at our DHA-licensed facility (License: 9834453) under stringent cold-chain protocols to ensure specimen integrity from collection to interpretation.
ملخص تنفيذي: فحص جيني متقدم بتقنية التسلسل الجيني من الجيل التالي (NGS) للكشف عن الطفرات المرضية في جين ROGDI المرتبطة بمتلازمة كولشوتر-تونز الوراثية. خدمة معتمدة بشهادة الأيزو 9001:2015 بدقة تشخيصية تبلغ 99.9% مع تغطية كاملة للإكسونات، ويتم إجراؤها في منشأتنا المرخصة من هيئة الصحة بدبي وفق بروتوكولات سلسلة التبريد الصارمة لضمان سلامة العينة.
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO-Accredited Processing
Premium Logistics
Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain & VIP Mobile Phlebotomy
Clinical Guidance
Telephonic Post-Test Clinical Guidance in Result Interpretation
Insurance
Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview
The ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test is a comprehensive single-gene sequencing assay that screens the entire coding region of the ROGDI gene using Next-Generation Sequencing (NGS) technology to identify pathogenic, likely pathogenic, and variants of uncertain significance (VUS) linked to this rare neurodevelopmental disorder. This test is indicated for patients presenting with the clinical triad of amelogenesis imperfecta (yellowish, hypoplastic enamel), drug-resistant epilepsy with onset in early childhood, and progressive cognitive decline — enabling definitive molecular diagnosis, family cascade screening, and informed reproductive planning.
اختبار تسلسل جيني شامل لتحديد الطفرات المسببة لمتلازمة كولشوتر-تونز النادرة، مما يتيح التشخيص الجزيئي الدقيق والتخطيط الإنجابي المستنير للعائلات المعرضة للخطر.
| Parameter | Our Test — NGS Platform | Closest Alternative — Sanger Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) — Full Gene Coverage | Capillary Sanger Sequencing — Targeted Amplicon Only |
| Variant Detection | SNVs, Indels, CNVs — Complete Exonic & Splice Site Regions | SNVs & Small Indels — Limited to Primed Regions |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (Multi-Amplicon) |
| Price (AED) | 2800 AED — All-Inclusive | Variable — Often Excludes Counselling |
| UAE Regulatory Status | DHA-Licensed | ISO 9001:2015 | PDPL-Compliant | May Lack Local Accreditation |
Physician Insight & Safety Protocol
A Note from Dr. Prabhakar Reddy — DHA License: 61713011
"As a clinician, I want families to understand that a genetic test result — whether positive, negative, or inconclusive — must always be interpreted within the full clinical context of the patient's neurological examination, EEG findings, and dental phenotype. This NGS assay is extraordinarily precise, yet no single laboratory result should ever replace comprehensive clinical evaluation by a qualified neurologist and medical geneticist. I encourage every patient and caregiver to use this report as a roadmap, not a final destination, and to seek thorough post-test counselling to fully grasp the implications for treatment, prognosis, and family planning."
⚠ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Patients undergoing genetic testing for Kohlschütter-Tönz Syndrome are often on anti-epileptic drugs (AEDs). Abrupt discontinuation or dose modification of anticonvulsant medications can precipitate breakthrough seizures, status epilepticus, or life-threatening withdrawal syndromes. All medication adjustments must be supervised exclusively by your treating neurologist.
🛡 Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection:
- Inability to provide informed consent (patient or legal guardian) per UAE Federal Decree-Law No. 41 of 2024, Art. 87
- Active febrile illness or acute infection at time of venipuncture
- Known coagulopathy or therapeutic anticoagulation without prior medical clearance
- Recent blood transfusion or haematopoietic stem cell transplant (within 90 days) — may confound germline DNA analysis
- Minors without documented parental/guardian consent as mandated by UAE CDS Law 2026
Emergency Red Flags — Seek Immediate Medical Attention:
- Status epilepticus — any seizure lasting longer than 5 minutes
- Acute neurological deterioration with loss of consciousness
- Severe adverse reaction during or after blood collection
- Respiratory distress or cyanosis
- This genetic test is elective and not intended for emergency diagnosis — for any acute neurological emergency, proceed directly to the nearest DHA-licensed hospital emergency department
Pre-Test Requirements & Logistics
Sample Types Accepted:
- Whole Blood (Venipuncture — EDTA Tube)
- Extracted DNA (≥2 µg, A260/A280: 1.8–2.0)
- Dried Blood Spot on FTA Card
Mandatory Pre-Test Protocol:
- Documented clinical history of patient
- Genetic counselling session to draw a pedigree chart of family members affected with Kohlschütter-Tönz Syndrome
- Signed informed consent per UAE PDPL data privacy requirements
Drug & Supplement Avoidance:
No specific drug or supplement restrictions are required prior to blood draw for genomic DNA extraction. However, patients should inform the phlebotomist of all current medications, particularly anticoagulants and antiplatelet agents.
Patient FAQ & Clinical Guidance
Q1: What is the ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test, and who should consider it?
The ROGDI Gene NGS Test is a high-precision genetic assay that sequences the entire ROGDI gene to detect disease-causing mutations responsible for Kohlschütter-Tönz Syndrome — a rare autosomal recessive condition marked by epilepsy, intellectual disability, and distinctive dental enamel defects — and is recommended for children and adults presenting with this clinical triad, siblings of confirmed cases, and couples with a family history seeking preconception carrier screening. The test requires only a blood sample, extracted DNA, or a dried blood spot on an FTA card, with results returned within 3 to 4 weeks through our DHA-licensed facility.
اختبار جيني عالي الدقة يكشف الطفرات المسببة لمتلازمة كولشوتر-تونز الوراثية النادرة، ويوصى به للأطفال والبالغين الذين تظهر عليهم الأعراض السريرية الثلاثية: الصرع، والإعاقة الذهنية، وعيوب مينا الأسنان المميزة.
Q2: Why is a genetic counselling session mandatory before undergoing this test?
Pre-test genetic counselling is mandatory because it ensures fully informed consent, establishes a detailed family pedigree to identify inheritance patterns, and prepares patients emotionally and psychologically for all possible outcomes — including positive, negative, or uncertain variant results that may carry profound implications for reproductive choices, family dynamics, and long-term care planning. Our DHA-certified genetic counsellors conduct this session prior to sample collection, in full compliance with UAE Federal Decree-Law No. 41 of 2024 and the UAE Personal Data Protection Law, safeguarding your privacy at every stage.
جلسة الاستشارة الوراثية إلزامية لضمان الموافقة المستنيرة الكاملة ورسم شجرة العائلة لتحديد أنماط الوراثة، ولإعداد المرضى نفسياً لجميع النتائج المحتملة ذات الآثار العميقة على الخيارات الإنجابية والتخطيط الأسري.
Q3: How are my results delivered, what do they mean clinically, and will my data remain private?
Your NGS test results are delivered within 3 to 4 weeks as a comprehensive molecular pathology report interpreted by board-certified clinical geneticists, classifying each detected variant according to ACMG/AMP 2026 guidelines into five tiers — Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign — and include telephonic post-test clinical guidance to explain findings in plain language, followed by recommendations for neurological follow-up and family cascade testing where indicated, all while your genetic data remains strictly protected under UAE PDPL encryption standards and is never shared with third parties without your explicit written authorisation.
تُسلم النتائج خلال 3 إلى 4 أسابيع كتقرير شامل لعلم الأمراض الجزيئية يتضمن تصنيف الطفرات وفق معايير ACMG/AMP 2026، مع استشارة هاتفية بعد الاختبار لشرح النتائج بلغة واضحة وتوصيات بالمتابعة العصبية والفحص المتسلسل للعائلة عند الحاجة.
UAE Regulatory Compliance & Accreditation
Facility License
DHA License No: 9834453
Quality Certification
ISO 9001:2015 — Cert: INT/EGQ/2509DA/3139
Legal Framework
Federal Decree-Law No. 41 of 2024 (Art. 87) | UAE CDS Law 2026 (Minors) | UAE PDPL
Support & Contact
WhatsApp: +971 54 548 8731
Home Collection: 8 AM – 11 PM Daily
Primary Clinical Specialists for This:
Neurologist • Medical Geneticist • Genetic Counsellor
2026 ICD-10-CM Codes: G40.909 (Epilepsy, unspecified) | K00.5 (Hereditary disturbances in tooth structure — amelogenesis imperfecta) | Z13.71 (Encounter for screening for genetic disorders)
LOINC Code: 101399-7 — Genetic analysis NGS panel (loinc.org/101399-7)
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