Test Price
2,800 AEDโ Home Collection Available
KCNH1 Gene Temple-Baraitser Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
โ 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
๐ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM)
๐งฌ Free Post-Test Clinical Guidance by DHA-Licensed Genetic Consultants
๐ Direct Insurance Billing Verification via WhatsApp
Executive Summary: A precise medical genetic test for diagnosing the rare Temple-Baraitser syndrome. Based on latest DHA guidelines with full legal compliance under Federal Decree-Law No. 45 of 2021 on Personal Data Protection and Federal Law No. 2 of 2019. Service includes sterile home blood collection and trusted telephone genetic consultation for UAE residents.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test analyses the entire coding region of the KCNH1 gene, the only gene known to cause Temple-Baraitser syndromeโa rare dysmorphology condition marked by intellectual disability, epilepsy, and distinct facial features. In the UAE, this 2800 AED test is exclusively offered through our DHA/MOHAP-licensed genetic laboratory, utilising targeted panel sequencing with 99.9% analytical sensitivity and a 3โ4 week turnaround.
| Feature | Our Test (KCNH1 NGS Premium) | Standard Hospital Genetic Panel |
|---|---|---|
| Methodology | Targeted NGS with full exon coverage & 1000ร read depth | Often limited to Sanger sequencing (single exon) or low-coverage NGS |
| Clinical Reporting | DHA-certified interpretation with ICD-10 coding & pedigree analysis | Raw result only; may lack correlation to dysmorphology findings |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Pre-Test Genetic Counselling | Included (pedigree charting & family screening discussion) | Often not provided or limited to a brief note |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics (DHA 9294403), I emphasise that this test identifies pathogenic variants in KCNH1 with high precision, but a negative result does not exclude other genetic aetiologies or a clinical diagnosis of Temple-Baraitser syndrome. All results must be correlated with a comprehensive dysmorphology evaluation and family history. I urge all patients and families to discuss findings with a clinical geneticist before making any medical or lifestyle decisions.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics
โ ๏ธ Medication Advisory
Do not discontinue any prescribed antiepileptic, psychotropic, or other medications before this test. Abrupt withdrawal can trigger serious adverse events. If the patient experiences a sudden increase in seizures, loss of consciousness, or signs of stroke following blood draw, seek immediate emergency care.
๐ซ Exclusion Criteria & Safety Red Flags
- Exclusion Criteria: The test cannot be performed on patients who have received a whole blood transfusion within the last 2 weeks, or on samples that are improperly collected and not transported at 2โ8ยฐC.
- Red Flags โ Seek Immediate Medical Attention: Sudden seizures, loss of consciousness, or stroke symptoms after blood draw require emergency department attendance.
- Consent & Minors: In compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability, testing of minors requires written consent from the legal guardian, supported by clinical justification and pre-test genetic counselling.
Patient FAQ & Clinical Guidance
1. What is the KCNH1 Genetic Test and why is it needed?
Direct Answer: This test analyses the KCNH1 gene using Next-Generation Sequencing to confirm a diagnosis of Temple-Baraitser syndrome in patients with characteristic dysmorphic features, developmental delay, and epilepsy.
2. How is the sample collected and how long do results take?
Direct Answer: A small blood sample is collected at home by a DHA-licensed phlebotomist between 8 AM and 11 PM. Results are delivered securely within 3 to 4 weeks, accompanied by a free genetic counselling session.
3. Is this test covered by UAE insurance and how is privacy protected?
Direct Answer: We provide direct insurance billing verification via WhatsApp. All genetic data is encrypted and handled in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019.
UAE Regulatory & Data Privacy Adherence
- โ Licensed by DHA โ Facility License No. 1143
- โ ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)
- โ Strict adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ all patient data encrypted and stored within UAE borders
- โ Compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- โ Pre-test information: Clinical history documentation and genetic counselling session with pedigree charting are mandated before sample collection.
- โ Physical Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | KCNH1 Gene Sequencing for Temple-Baraitser Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS), targeted gene panel, full exon coverage, 1000ร read depth |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians