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Test Price

2,800 AED

✅ Home Collection Available

CTNS Gene (Cystinosis, Nephropathic) Genetic Test in UAE | 2800 AED | DHA-Approved

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified 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 by Consultant Medical Genetics.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The CTNS gene test uses advanced Next-Generation Sequencing (NGS) to identify pathogenic variants causing nephropathic cystinosis, a rare metabolic disorder leading to kidney failure. This comprehensive genetic analysis supports early diagnosis, treatment planning, and family genetic counselling.

Methodology Comparison

Feature Our CTNS NGS Test (DHA-Approved) Standard Cystinosis Gene Panel
Methodology Full-gene NGS with Sanger confirmation Limited gene coverage (hotspot only)
Detection Sensitivity >99.9% for all pathogenic variants (SNVs/indels/CNVs) ~85% (misses deep intronic & copy-number changes)
Turnaround Time 3–4 Weeks (ISO-certified lab) 4–6 Weeks (often without genetic counselling support)
Post-Test Guidance Included telephonic clinical interpretation Report only; no expert discussion

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specialist, I want families to understand that this genetic test provides a definitive molecular diagnosis for nephropathic cystinosis. However, results must be correlated with clinical findings and biochemical markers such as blood cystine levels. Our multidisciplinary team ensures compassionate care from diagnosis through treatment planning. Genetic counselling for at-risk relatives is strongly recommended.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

⚠ Medication Warning

Do not discontinue prescribed medication (e.g., cysteamine, electrolyte replacements) without consulting your doctor. Abrupt changes can trigger metabolic crisis or acute kidney injury. Always follow your nephrologist's guidance regarding medication adjustments.

Safety Exclusion Criteria & Emergency Red Flags

Patient Exclusion Criteria

  • Exclusion: Individuals unable to provide informed consent (or legal guardian consent).
  • Exclusion: Active febrile illness or systemic infection; postpone testing until recovery.
  • Exclusion: Recent blood transfusion (<4 weeks) – may interfere with extracted DNA quality.

Emergency Red Flags

  • ER Red Flag: Sudden photophobia, severe eye pain, or acute vision loss (possible corneal cystine crystal crisis) – proceed to ER immediately.
  • ER Red Flag: Signs of acute kidney failure: rapid decrease in urine output, confusion, uncontrollable vomiting – urgent nephrology consultation required.

Patient FAQ & Clinical Guidance

1. What does a positive CTNS gene test mean for my child's health?

A positive result confirms nephropathic cystinosis, indicating pathogenic mutations in both CTNS gene copies. This means your child's body cannot transport cystine out of lysosomes, leading to crystal accumulation and progressive kidney damage. Early initiation of cysteamine therapy and multidisciplinary care can significantly slow disease progression. We strongly recommend genetic counselling for the entire family.

2. How accurate is the NGS technology used for this test?

Our NGS method achieves >99.9% sensitivity for detecting CTNS gene mutations with coverage exceeding 100x uniformity. All pathogenic, likely pathogenic, and variants of uncertain significance (VUS) are confirmed by Sanger sequencing, ensuring a false-positive rate near zero. The ISO 9001:2015 certification guarantees rigorous quality control at every step.

3. Does the test require fasting or special preparation?

No fasting is required; a simple blood draw or FTA card sample suffices for DNA extraction. However, we do request a detailed clinical history and, ideally, a pre-test genetic counselling session to draw a family pedigree. Please maintain your regular diet and medications unless advised otherwise by your physician.

4. What is the turnaround time for results?

Results are available within 3–4 weeks from sample receipt. This timeframe includes full-gene NGS analysis, Sanger confirmation of all identified variants, and comprehensive interpretation by our Consultant Medical Genetics team. You will receive a detailed clinical report with therapeutic recommendations.

UAE Regulatory & Data Privacy Adherence

Legal & Compliance Framework

This test strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing patient data confidentiality and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is licensed under DHA Facility License No. 1143 and operates in full compliance with Dubai Healthcare City standards.

Clinical & Logistical Metadata

Test Name CTNS Gene (Cystinosis, Nephropathic) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole blood (EDTA), extracted DNA, or one drop of blood on FTA card
Methodology Used Next-Generation Sequencing (NGS) with Sanger confirmation
ICD-10-CM Code E72.04 (Nephropathic cystinosis), Z14.8 (Genetic susceptibility to other disease), Z84.8 (Family history of other specified conditions)
LOINC Code 69566-0 (CTNS gene mutations tested in Blood or Tissue by Molecular genetics method)
DHA Facility License & Laboratory Address DHA License No: 1143 | DNA Labs UAE — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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