Test Price
2,800 AEDโ Home Collection Available
C12orf57 Gene Temtamy Syndrome Genetic Test in UAE โ 2800 AED โ DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139). Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation. Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted next-generation sequencing (NGS) test analyzes the entire coding region of the C12orf57 gene to diagnose Temtamy syndrome, a rare dysmorphology disorder characterized by craniofacial anomalies, intellectual disability, and ocular malformations. Early molecular diagnosis enables accurate genetic counselling, tailored medical surveillance, and connection with specialised dysmorphology services.
| Feature | Our Test (C12orf57 NGS) | Closest Alternative (Whole Exome) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity | ~95% sensitivity, higher incidentalome |
| Methodology | Targeted NGS + Sanger Confirmation | Whole Exome Sequencing (WES) |
| Turnaround Time | 3 to 4 Weeks | 6 to 12 Weeks |
| Data Interpretation | Single-gene depth โฅ500x; focused clinical report | Variable coverage; complex incidental findings |
Physician Insight & Safety Protocols
"Understanding the genetic basis of Temtamy syndrome provides families with clarity and guides personalised care. As a consulting medical geneticist, I emphasize that genetic results must always be interpreted alongside comprehensive clinical evaluation and family history. This targeted C12orf57 test offers a precise and efficient diagnostic pathway for suspected Temtamy syndrome."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Precautions and Contraindications
This genetic test is strictly for diagnostic confirmation of Temtamy syndrome in individuals with clinical features suggestive of C12orf57-related disorder. Results require confirmation by a DHA-licensed medical geneticist. Predictive testing in asymptomatic minors must follow established ethical guidelines with appropriate genetic counselling.
Clinical Exclusion Criteria & Emergency Red Flags
- Exclusion: Acute febrile illness, uncontrolled seizures, or medically unstable paediatric patient at the time of sample collection.
- Exclusion: Inability to provide a high-quality DNA sample (e.g., severe haemolysis, insufficient volume).
- Emergency Red Flag: Sudden severe developmental regression, new-onset refractory seizures, or acute vision loss โ seek immediate emergency care regardless of testing plans.
- Emergency Red Flag: Suspicion of child abuse or neglect; triggers mandatory child protection reporting under UAE Federal Law No. 3 of 2016 (Child Rights Law).
Patient FAQ & Clinical Guidance
1. What is Temtamy syndrome and why is this genetic test important?
Temtamy syndrome is a rare genetic disorder caused by mutations in the C12orf57 gene, characterized by distinctive craniofacial features, intellectual disability, and ocular anomalies including coloboma and microphthalmia. This targeted genetic test provides definitive molecular diagnosis, enabling accurate genetic counselling, tailored medical surveillance, and informed family planning decisions in the UAE.
2. How is the sample collected and is home service available in the UAE?
Sample collection is performed via standard peripheral blood draw or one drop of blood on a specialised FTA card, executed by our VIP Mobile Phlebotomy team. We provide temperature-controlled cold-chain home collection across all Emirates daily from 8 AM to 11 PM. The process is suitable for paediatric patients and complies fully with UAE data privacy regulations under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
3. What pre-test requirements must be fulfilled before genetic testing?
A detailed clinical history of the patient must be provided along with a formal genetic counselling session to document family pedigree. No fasting is required. Continue all prescribed medications and supplements as directed by your physician. For minors, written parental consent is mandatory in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE child protection regulations.
4. What does the turnaround time mean and when will I receive results?
The standard turnaround time is 3 to 4 weeks from sample receipt at our laboratory. This includes DNA extraction, targeted NGS sequencing, bioinformatics analysis, Sanger confirmation of detected variants, and clinical interpretation by a DHA-licensed medical geneticist. Reports are delivered electronically in a secure, confidential format. Expedited processing may be available upon request with additional charges.
5. How is my genetic data protected under UAE law?
Your genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Results are reported in strict confidence, accessible only to the ordering physician and the patient. DNA Labs UAE ISO 9001:2015 certification ensures rigorous data security protocols.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory Compliance: This service adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical patient safety and consent procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). All genetic results are interpreted and reported only by DHA-licensed medical genetics specialists under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | C12orf57 Gene Sequencing โ Temtamy Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) + Sanger Confirmation |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes affecting multiple systems) |
| LOINC Code | 94222-3 (Targeted gene sequencing panel) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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