Test Price
2,800 AEDโ Home Collection Available
TTC21B Gene Nephronophthisis Type 12 Genetic Test in UAE โ 2800 AED
Executive Summary & Core Metrics
This TTC21B gene sequencing test identifies pathogenic variants associated with Nephronophthisis type 12, a ciliopathy affecting kidneys, liver, and endocrine systems. The analysis uses ISO 15189 validated next-generation sequencing (NGS) with 99.9% diagnostic sensitivity. Premium logistics include VIP mobile phlebotomy and temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM. Post-test clinical guidance is provided via telephone to support result interpretation. Insurance coverage can be verified directly via WhatsApp at +971 54 548 8731.
- โAccuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- โPremium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain, VIP Mobile Phlebotomy.
- โClinical Guidance: Telephonic Post-Test Clinical Guidance for comprehensive result interpretation.
- โInsurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TTC21B gene test provides comprehensive sequencing of all coding exons and flanking intronic regions to detect single nucleotide variants, small insertions/deletions, and splice-site alterations. This gold-standard approach ensures high diagnostic yield for suspected nephronophthisis type 12 (NPHP12), a condition that may present with renal cysts, hepatic fibrosis, and retinal degeneration.
| Feature | Our Test (Gold Standard) | Alternative Panels |
|---|---|---|
| Precision | Single-gene deep NGS with complete exon coverage & splice sites | Broad panel, limited depth for TTC21B |
| Method | ISO 15189 validated NGS pipeline | Microarray or targeted genotyping |
| Speed | 3โ4 weeks with genetic counselling support | 4โ8 weeks, often without interpretation |
Physician Insight & Safety Protocols
"A positive TTC21B result should be interpreted in the context of renal ultrasound findings, liver function tests, and ophthalmologic evaluation. Genetic findings alone never dictate diagnosis; they guide targeted management and family screening." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Precautions
Important Safety Advisory
Do not discontinue prescribed medication without consulting your doctor. This test is for diagnostic support only; it does not replace clinical evaluation.
Exclusion Criteria & Emergency Signs
- Acute kidney injury (sudden drop in urine output, flank pain) โ seek emergency care.
- Hepatorenal syndrome signs (jaundice, ascites, confusion) โ immediate hospitalization required.
- Children with failure to thrive, polyuria, polydipsia โ urgent pediatric nephrology consultation.
- Self-referred individuals without genetic counselling โ service may be deferred until pre-test consultation.
Patient FAQ & Clinical Guidance
1. What does the TTC21B test detect and why is 2800 AED justified?
This NGS test comprehensively sequences the entire TTC21B gene to identify single nucleotide variants, deletions, and duplications associated with nephronophthisis type 12, providing a diagnostic certainty that guides renal and hepatic surveillance. The price reflects full gene coverage, ISO-certified bioinformatics pipeline, and mandatory pre-test genetic counselling to draw a pedigree chart, ensuring clinical actionability and insurance compliance.
2. How is the home collection service performed in compliance with UAE laws?
The home collection is conducted by DHA-licensed phlebotomists using cold-chain validated kits and adheres strictly to the UAE Personal Data Protection Law (PDPL), with samples transported in temperature-monitored containers to our ISO 9001:2015 laboratory. The entire process from collection to result reporting respects Federal Decree-Law No. 45 of 2021 on Personal Data Protection and Federal Law No. 2 of 2019 on health information technology. Identification and consent are verified via Emirates ID or passport.
3. What should I do if a TTC21B mutation is found?
A positive result triggers immediate multidisciplinary referral including a clinical geneticist, nephrologist, and hepatologist. Our included post-test telephonic guidance will explain the variantโs significance, recommend first-degree relative cascade testing, and coordinate further imaging such as renal ultrasound, liver elastography, and endocrine assessment. We provide a detailed clinical correlation letter for your primary physician. Do not interpret results in isolation.
UAE Regulatory & Data Privacy Adherence
This test is conducted under the regulatory oversight of the Dubai Health Authority (DHA) and complies 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. All genetic data is handled with strict confidentiality and processed in ISO 15189 accredited laboratories. For clinical safety, Federal Decree-Law No. 4 of 2016 on Medical Liability governs the pre- and post-test counselling and reporting standards.
Clinical & Logistical Metadata
| Test Name | TTC21B Gene Nephronophthisis Type 12 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Saliva โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AMโ11 PM |
| Methodology Used | Next Generation Sequencing (NGS), full gene sequencing with complete exon coverage |
| ICD-10-CM Code | Q61.8 (Other medullary cystic kidney disease), Q61.9 (Cystic kidney disease, unspecified) |
| LOINC Code | 82319-3 (Gene mutation analysis for hereditary disease) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 โ DNA Labs UAE, 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