Test Price
2,800 AEDโ Home Collection Available
RFT1 Gene Congenital Disorder of Glycosylation Type 1N (CDG-1N) Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS processing.
- 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 with genetic counselling.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- Laboratory Accreditation: DHA Facility License 1143, ISO 9001:2015 Certified.
Test Overview & Methodology
The RFT1 gene test using Next-Generation Sequencing (NGS) detects pathogenic variants causing Congenital Disorder of Glycosylation Type 1N, a rare autosomal recessive metabolic condition. This test is indicated for patients presenting with developmental delay, elevated transferrin isoforms, suspected CDG symptoms, family history, or carrier screening. The assay provides definitive molecular diagnosis with international reporting standards and full gene coverage including intron-exon boundaries.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) | Capillary Electrophoresis (Sanger) |
| Analytical Sensitivity | >99.9% | ~95% |
| Turnaround Time | 21โ28 Calendar Days (3โ4 Weeks) | 4โ6 Weeks |
| Coverage | Full gene including intron-exon boundaries | Limited to targeted exons |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics, I emphasize that molecular confirmation of RFT1-related CDG-1N is essential for accurate prognosis and family counselling. Early genetic diagnosis enables tailored metabolic management and informed reproductive planning. I strongly recommend all patients undergo pre- and post-test genetic counselling to fully understand the implications of their results and to coordinate care with their treating physician.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory & Clinical Precaution
โ ๏ธ Do Not Discontinue Prescribed Medication Without Consulting Your Doctor
Patients undergoing evaluation for CDG-1N should maintain all current therapies. This genetic test is a diagnostic adjunct and does not replace clinical monitoring or emergency interventions. Always consult your physician before altering any prescribed treatment regimen.
Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not intended for asymptomatic minors without legal guardian consent. Not a substitute for enzymatic testing in acute metabolic crises or for newborn screening panels.
- Red Flags โ Seek Immediate Emergency Care: Lactic acidosis, stroke-like episodes, intractable vomiting, severe hypoglycemia, or seizure clusters. Do not rely solely on this genetic test during acute medical emergencies.
Patient FAQ & Clinical Guidance
1. What does the RFT1 gene NGS test detect?
Snippet: This test detects pathogenic variants in the RFT1 gene associated with Congenital Disorder of Glycosylation Type 1N using next-generation sequencing. It covers the full coding region and splice sites to identify causative mutations, enabling a definitive molecular diagnosis with high sensitivity.
2. How should I prepare for the RFT1 genetic test?
Snippet: No fasting is required. A simple whole blood draw or buccal swab is sufficient. A mandatory pre-test genetic counselling session is provided to review family history and draw a pedigree chart before sample collection. Our VIP mobile phlebotomy service ensures temperature-controlled cold-chain transport between 8 AM and 11 PM daily.
3. How long does it take to receive results and what support is offered?
Snippet: Reports are delivered within 21โ28 calendar days and include a telephonic post-test clinical guidance session with a genetic counsellor. Insurance direct billing verification is available via WhatsApp at +971 54 548 8731 before testing. Our genetic counsellors are available MondayโSaturday to explain findings in English.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing all patient genetic data processing.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating health information systems.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring clinical safety and informed patient consent.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) โ quality management system audited annually.
- DHA Facility License No. 1143 โ valid for clinical laboratory operations in Dubai Healthcare City.
All genetic results are encrypted, access-controlled, and retained in compliance with UAE federal data retention policies. Patient consent is obtained prior to sample collection and testing.
Clinical & Logistical Metadata
| Test Name | RFT1 Gene Congenital Disorder of Glycosylation Type 1N (CDG-1N) Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21โ28 Calendar Days (3โ4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AMโ11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coverage including intron-exon boundaries |
| ICD-10-CM Code | E77.8 (Other disorders of glycoprotein metabolism) |
| LOINC Code | 81264-5 (RFT1 gene mutations detected in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
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HIPAA
All reports reviewed by DHA-Certified physicians