Test Price
2,800 AED✅ Home Collection Available
ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
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: 1143) under stringent cold-chain protocols to ensure specimen integrity from collection to interpretation.
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO-Accredited Processing
Premium Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection
Clinical Guidance
Telephonic Post-Test Clinical Guidance in Result Interpretation
Insurance
Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
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. Sample types accepted include whole blood (EDTA), extracted DNA (≥2 µg, A260/A280: 1.8–2.0), or dried blood spot on FTA card. A mandatory pre-test genetic counselling session and signed informed consent per UAE Personal Data Protection Law are required prior to collection.
| 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 Protocols
A Note from Lina Osama Zaki Quteineh — DHA License: 9294403
"As a Consultant Medical Geneticist, I emphasise that interpreting a ROGDI gene test result demands integration with the full clinical picture — neurological exam, EEG, and dental phenotype. Our NGS assay is highly sensitive, yet no test replaces the expertise of a qualified geneticist and neurologist. I recommend every patient and family use this report as a guide for targeted care, cascade screening, and informed reproductive decisions."
⚠ 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. 4 of 2016 on Medical Liability
- 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 Federal Law No. 2 of 2019
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
Patient FAQ & Clinical Guidance
1. 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. It 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, with results returned within 3 to 4 weeks through our DHA-licensed facility.
2. Why is a genetic counselling session mandatory before undergoing this test?
Pre-test genetic counselling ensures fully informed consent, establishes a detailed family pedigree to identify inheritance patterns, and prepares patients for all possible outcomes — including positive, negative, or uncertain variant results that may carry profound implications for reproductive choices and long-term care. Our DHA-certified genetic counsellors conduct this session before sample collection, in full compliance with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019.
3. 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 guidelines into five tiers — Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign. Telephonic post-test clinical guidance explains findings in plain language, followed by recommendations for neurological follow-up and family cascade testing when indicated. Your genetic data remains strictly protected under UAE PDPL encryption standards and is never shared without your explicit written authorisation.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Accreditation
Facility License
DHA License No: 1143
Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Quality Certification
ISO 9001:2015 — Cert: INT/EGQ/2509DA/3139
Legal Framework
Federal Decree-Law No. 45 of 2021 (PDPL) | Federal Law No. 2 of 2019 (Health ICT) | Federal Decree-Law No. 4 of 2016 (Medical Liability)
Support & Contact
WhatsApp: +971 54 548 8731
Home Collection: 8 AM – 11 PM Daily
Clinical & Logistical Metadata
| Test Name | ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test (NGS) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (≥2 µg, A260/A280 1.8–2.0), Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage including splice sites |
| ICD-10-CM Code | G40.909, K00.5, Z13.71 |
| LOINC Code | 101399-7 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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