Test Price
2,800 AED✅ Home Collection Available
TWNK Gene Perrault Syndrome Type 5 Next-Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
✓ 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited molecular processing
✓ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM
✓ Post-Test Telephonic Clinical Guidance with a Consultant Medical Genetics specialist
✓ Direct Insurance Verification via WhatsApp: +971 54 548 8731
Test Overview & Methodology
This Next-Generation Sequencing test detects pathogenic variants in the TWNK gene responsible for Perrault syndrome type 5, a rare autosomal recessive disorder characterized by congenital sensorineural hearing loss and ovarian dysgenesis. The assay provides comprehensive molecular confirmation to guide medical and reproductive planning.
| Feature | Our NGS Test | Standard Single-Gene Test |
|---|---|---|
| Methodology | Next-Generation Sequencing with CNV detection | Sanger sequencing of exons only |
| Coverage | Full gene including intronic flanking regions ± 20 bp | Coding exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price (AED) | 2800 | 3200–4500 |
| ISO 9001:2015 Certified | Yes (Cert: INT/EGQ/2509DA/3139) | Not always guaranteed |
Physician Insight & Safety Protocols
"Genetic diagnosis can be a complex journey for families. Our approach integrates advanced sequencing with compassionate, personalized support. This test for Perrault syndrome type 5 delivers definitive molecular answers, enabling tailored care pathways. Always discuss results with your neurologist or geneticist; never alter medications without professional guidance."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Safety & Clinical Context
⚠️ Medication Warning: Do not discontinue or modify any prescribed treatment without direct consultation with your treating physician. Genetic test results are one component of the clinical picture and do not replace a comprehensive medical evaluation.
Exclusion Criteria & Safety Red Flags
- Inability to provide informed consent or a detailed family pedigree.
- Individuals without clinical features suggestive of Perrault syndrome (e.g., isolated hearing loss without ovarian involvement in females).
- Seek emergency care immediately if you experience: acute sudden hearing loss, severe abdominal or pelvic pain, or signs of ovarian torsion—these require urgent evaluation and are not related to the blood draw.
- Pre-test genetic counseling is mandatory; this test is not a substitute for a comprehensive counseling session.
Patient FAQ & Clinical Guidance
1. What exactly does the TWNK Gene Perrault Syndrome Type 5 NGS test detect?
This test identifies pathogenic mutations across the entire TWNK gene, including single nucleotide variants, small insertions/deletions, and copy number variations, confirming Perrault syndrome type 5 with over 99.9% analytical accuracy.
2. How is the sample collected, and can it be done at home?
A certified nurse collects 3–5 mL of whole blood, a buccal swab, or a finger-prick FTA card in the comfort of your home during our VIP Mobile Phlebotomy service (daily 8 AM–11 PM). All samples are transported using temperature-controlled cold-chain logistics.
3. How long until I receive my results, and who will explain them?
Results are ready in 3 to 4 weeks and include a complimentary telephonic consultation with a Consultant Medical Genetics to interpret findings and discuss next steps.
UAE Regulatory & Data Privacy Adherence
ISO This laboratory operates under ISO 9001:2015 quality management (Cert: INT/EGQ/2509DA/3139) and strictly follows UAE 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. Patient consent and clinical safety are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | TWNK Gene Perrault Syndrome Type 5 NGS Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (3–5 mL), Buccal Swab, or FTA Card |
| Methodology Used | Next-Generation Sequencing with CNV detection |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 21636-6 (TWNK gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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