Test Price
2,800 AED✅ Home Collection Available
TJP1 Deficiency – Next‑Generation Sequencing (NGS) Genetic Test in UAE · 2,800 AED
Executive Summary & Core Metrics
This advanced genetic test sequences the complete coding region of the TJP1 gene using next‑generation technology, delivering a diagnostic sensitivity of 99.9% through an ISO‑certified laboratory. The service includes temperature‑controlled home phlebotomy, post‑test tele‑consultation with a consultant medical geneticist, and direct insurance verification.
- Diagnostic Accuracy: 99.9% targeted NGS sensitivity for known pathogenic variants.
- Premium Logistics: VIP mobile phlebotomy with cold‑chain transport, available daily 8 AM–11 PM.
- Clinical Guidance: Post‑result tele‑consultation with a senior genetic specialist.
- Insurance Direct Billing: Instant policy verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The assay targets the entire coding region and splice junctions of the TJP1 gene using probe‑based hybrid capture followed by Illumina next‑generation sequencing. Bioinformatic analysis identifies single‑nucleotide variants, small insertions/deletions, and copy‑number alterations with high confidence. Results are reported as a clinically actionable document within 3–4 weeks.
| Feature | TJP1 NGS Test (This Panel) | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Target | TJP1 gene exclusively | All ~20,000 genes |
| Clinical Sensitivity | 99.9% for known variants | ~95% (variable coverage) |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Incidental Findings | Minimal, gene‑focused | High risk of unsolicited abnormalities |
| Cost (AED) | 2,800 | 5,000–12,000 |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I regard a pathogenic TJP1 variant as a valuable diagnostic clue that must be correlated with the patient’s full metabolic profile, biochemical markers, and family pedigree. This test offers excellent analytical sensitivity for known mutations, but it is not a standalone diagnosis. I strongly recommend a formal consultation with a metabolic specialist or genetic counsellor to construct a comprehensive management plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics · DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, alter, or postpone any prescribed medication without explicit instruction from your treating physician. Genetic test results are intended to support clinical decision‑making and must never replace professional medical judgement or override existing therapy.
Exclusion Criteria & Red Flags
- Inability to provide a valid venous blood sample or FTA card (e.g. severe thrombocytopenia, inadequate venous access).
- Current acute metabolic decompensation, uncontrolled seizures, or haemodynamic instability — defer collection until stabilised.
- Emergency Red Flags: If the patient develops vomiting, lethargy, altered consciousness, or respiratory distress, seek immediate emergency medical attention rather than waiting for test results.
Patient FAQ & Clinical Guidance
1. How does this NGS test differ from older genetic approaches for TJP1?
This test uses next‑generation sequencing to read the entire coding region and splice sites of the TJP1 gene with very high depth, achieving 99.9% sensitivity for known pathogenic variants. Traditional Sanger sequencing is slower, typically examines only selected exons, and frequently misses deep intronic or mosaic mutations that NGS can detect.
2. Can I have the sample collected at home, and is the test covered by insurance?
Yes. A DHA‑licensed phlebotomist will visit your home between 8 AM and 11 PM with temperature‑controlled cold‑chain equipment to ensure specimen integrity. Most major insurers in the UAE offer direct billing after a quick policy verification via WhatsApp on +971 54 548 8731.
3. What preparation is needed before the blood draw?
No special preparation such as fasting is required. Please bring a brief clinical history and, if available, a family pedigree diagram. Continue all regular medications unless your doctor has explicitly advised otherwise. The phlebotomist will confirm the sample requirements on arrival.
4. What does the final report include, and who interprets it?
The report lists all detected sequence variants classified according to ACMG/AMP guidelines, along with an evidence‑based clinical interpretation. A post‑test tele‑consultation with our consultant medical geneticist is included to help you and your referring physician understand the implications for diagnosis, management, and family counselling.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic and personal data are processed in strict 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. No genetic information is shared with third parties without explicit patient consent.
Clinical Safety & Consent: The collection procedure, laboratory analysis, and reporting follow the standards set forth in Federal Decree‑Law No. 4 of 2016 on Medical Liability. Informed consent is obtained before sample collection, and all patient rights under UAE healthcare law are fully respected.
Laboratory Accreditation & Facility: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All genetic testing is performed at DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | TJP1 Deficiency – Next‑Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or FTA card; VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Probe‑based hybrid capture next‑generation sequencing (Illumina platform); bioinformatic analysis for SNVs, indels & CNVs |
| ICD‑10‑CM Code | E88.89 (Other specified metabolic disorders) |
| LOINC Code | 103204-5 (Gene mutations identified by Next generation sequencing) |
| DHA Facility License & Address | License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE · DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians