Test Price
2,800 AED✅ Home Collection Available
TTC21B Genetic Test (Short-Rib Thoracic Dysplasia Type 4) – NGS DNA Analysis in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited 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 DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The TTC21B gene test analyzes DNA for mutations causing short-rib thoracic dysplasia type 4, a severe skeletal dysplasia with polydactyly – critical for accurate diagnosis, family planning, and neonatal management. Full gene sequencing via Next Generation Sequencing (NGS) with copy number variant analysis ensures comprehensive detection of pathogenic variants. A genetic counseling session is required to draw a pedigree chart of family members affected with TTC21B-related short-rib thoracic dysplasia type 4 with or without polydactyly. Please provide detailed clinical history of the proband. Sample types accepted: Blood (EDTA tube), Extracted DNA, or One drop blood on FTA card.
| Feature | Our NGS Test (UAE) | Alternative (Standard Panel) |
|---|---|---|
| Methodology | Full gene NGS with copy number analysis | Sanger sequencing limited to exons |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Report Detail | Clinically annotated, DHA-compliant, interpretation included | Raw variant list only |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasize that while this test provides definitive molecular diagnosis, results must be correlated with clinical and radiographic findings. Never make management decisions solely on genetic data. Consult a specialist for comprehensive counseling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory: Medication Continuity
Do not discontinue any prescribed medication without consulting your treating physician. Genetic test results do not replace ongoing clinical management or acute care.
Safety & Exclusion Criteria
- Individuals under 18 years must have guardian consent and presence during sample collection.
- Severe bleeding diathesis or active infection at venipuncture site contraindicates blood draw.
- Emergency red flags: Seek immediate medical attention if experiencing respiratory distress, cyanosis, or severe skeletal pain. This test is not for prenatal diagnosis in current scope; contact lab for fetal sample options.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of TTC21B gene testing?
This test identifies pathogenic mutations in TTC21B causing short-rib thoracic dysplasia type 4, enabling precise diagnosis and recurrence risk assessment for families. Results guide genetic counseling and reproductive planning.
2. How should I prepare for the blood draw?
Fasting is not required; stay hydrated and inform our phlebotomist of any bleeding disorders or medications. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM.
3. What are the implications of a positive result?
A positive result confirms the clinical diagnosis and guides genetic counseling for family planning. Your geneticist will explain the inheritance pattern and management options in detail.
4. How long does it take to get results?
Turnaround time is 3 to 4 weeks from sample receipt in the laboratory. Urgent cases can be discussed with the genetic team.
UAE Regulatory & Data Privacy Adherence
This test is performed in full 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. Patient data is encrypted, access-restricted, and processed under strict confidentiality protocols in accordance with DHA regulatory standards. Clinical consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | TTC21B Genetic Test (Short-Rib Thoracic Dysplasia Type 4) – NGS DNA Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) with Copy Number Variation Analysis |
| ICD-10-CM Code | Q77.2 |
| LOINC Code | 55233-1 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Lab: DNA Labs UAE |
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