Test Price
2,800 AED✅ Home Collection Available
TRPS1 Gene Langer‑Giedion Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
The TRPS1 Gene NGS Test utilises Next‑Generation Sequencing to detect pathogenic variants in the TRPS1 gene, confirming the diagnosis of Langer‑Giedion syndrome (trichorhinophalangeal syndrome type II) in patients presenting with characteristic dysmorphic features and multiple exostoses. This molecular diagnostic service is performed at DNA Labs UAE, an ISO‑accredited laboratory, delivering 99.9% diagnostic sensitivity. Each result is correlated with the complete clinical picture and includes telephonic post‑test clinical guidance.
99.9% Diagnostic Sensitivity via ISO‑Accredited NGS Processing.
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM daily).
Telephonic Post‑Test Clinical Guidance. Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The TRPS1 Gene NGS Test employs advanced Next‑Generation Sequencing with robust bioinformatics analysis to identify point mutations, small insertions/deletions, and copy number variations across the TRPS1 gene. This comprehensive approach enables definitive molecular confirmation of Langer‑Giedion syndrome, facilitating precise medical management, surveillance for associated complications such as exostoses and cardiac anomalies, and informed family planning decisions.
| Feature | Our TRPS1 NGS Test | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | >99.9% sensitivity for point mutations, indels, and CNVs | ~95% sensitivity; limited to single exon-level changes |
| Methodology | Next‑Generation Sequencing (NGS) + advanced bioinformatics | Sanger sequencing – lower throughput |
| Turnaround | 3–4 weeks | 4–6 weeks (fragmented workflow) |
| Clinical Utility | Comprehensive variant detection, carrier testing, family planning | Confirmation of previously known familial mutation only |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the profound uncertainty that families experience when a rare genetic syndrome such as Langer‑Giedion is suspected. The TRPS1 NGS result must always be integrated with the complete clinical picture—detailed physical examination, radiographic assessment for multiple exostoses, and three‑generation family pedigree—before rendering a definitive diagnosis. I strongly advise that every result be reviewed with a licensed genetic counsellor to ensure accurate interpretation, management planning, and appropriate long‑term surveillance.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Precautions & Patient Safety
Contraindications & Warning Notes: This test is not recommended for individuals who have undergone allogeneic bone marrow transplantation within the preceding six months, as residual donor DNA may confound variant detection. Specimens yielding insufficient DNA quantity or quality (e.g., haemolysed blood samples) may require recollection. Active infection does not interfere with molecular analysis but should be documented in the clinical history.
Emergency Red Flags: Patients should seek immediate hospital evaluation if they develop sudden severe bone pain, acute neurological deficits such as leg weakness or bowel/bladder incontinence, or respiratory compromise—these symptoms may indicate spinal cord compression or malignant transformation of an exostosis.
Eligibility & Exclusion Criteria
- Inclusion: Individuals with clinical suspicion of Langer‑Giedion syndrome based on dysmorphic features, multiple exostoses, or positive family history.
- Exclusion: Recent bone marrow transplant (<6 months), insufficient DNA yield, or haemolysed blood specimens.
- Required Pre‑test: Genetic counselling session with pedigree chart of affected family members and signed informed consent.
Patient FAQ & Clinical Guidance
1. What is the TRPS1 gene test and why is it performed?
The TRPS1 gene NGS test identifies pathogenic variants in the TRPS1 gene to confirm a diagnosis of Langer‑Giedion syndrome in individuals presenting with suggestive clinical features. This definitive molecular diagnosis guides medical management, screens for associated complications such as exostoses and cardiac anomalies, and facilitates informed family planning decisions.
2. How is the sample collected for this test?
A standard peripheral blood draw into an EDTA tube, a sample of extracted DNA, or a single drop of blood on an FTA card is used for DNA extraction in our ISO‑accredited laboratory. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM for home collection; all specimens are transported under strict temperature‑controlled cold‑chain conditions to preserve nucleic acid integrity.
3. How long does it take to receive results, and how are they delivered?
Results are typically available within 3 to 4 weeks, ensuring comprehensive NGS analysis and rigorous quality control. A preliminary verbal report may be issued after two weeks for urgent cases. The final written report includes detailed variant interpretation, clinical recommendations, and a cover letter suitable for sharing with your managing physician or genetic counsellor.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This diagnostic service operates under DHA Facility License No. 1143 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 clinical testing and patient consent procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Accreditation: DNA Labs UAE is ISO 9001:2015 certified (Certificate: INT/EGQ/2509DA/3139). All genetic counselling and informed consent processes meet UAE genetic testing guidelines.
Data Privacy: Patient genetic data is encrypted, access‑controlled, and processed solely for diagnostic purposes. No data is shared with third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | TRPS1 Gene Langer‑Giedion Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with Advanced Bioinformatics |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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