Test Price
2,800 AED✅ Home Collection Available
FGFR3 Gene Achondroplasia Genetic Test (NGS) in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189 accredited processing.
Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic post-test clinical guidance provided for result interpretation.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test screens for pathogenic FGFR3 gene variants causing achondroplasia using Next‑Generation Sequencing (NGS), delivering precise diagnosis and personalized management plans. The assay sequences the full coding region of the FGFR3 gene at 300× mean coverage on the Illumina platform, detecting both common hotspot mutations (c.1138G>A and c.1138G>C) and rare or novel pathogenic variants with high confidence.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Coverage | Full coding region sequencing; identifies all known and novel pathogenic variants | Targeted analysis of common hotspots (c.1138G>A / c.1138G>C); may miss rare mutations |
| Methodology | Next‑Generation Sequencing (Illumina platform, 300× mean coverage) | Bidirectional Sanger sequencing of specific exon 10 fragment |
| Speed (Turnaround) | 3–4 Weeks (including comprehensive bioinformatics and clinical interpretation) | 2–3 Weeks (limited analysis) |
Physician Insight & Safety Protocols
"As a Consultant in Medical Genetics, I emphasize that the FGFR3 NGS result must always be correlated with clinical and radiological findings. A molecular diagnosis confirms the condition but does not predict every nuance of the phenotype; therefore, comprehensive genetic counselling remains essential for all patients and families." – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre‑Test Genetic Counselling Advisory
Under UAE regulatory standards, pre‑test genetic counselling is mandatory for all individuals undergoing predictive or diagnostic genetic testing. A licensed genetic counsellor or medical geneticist must explain the inheritance pattern (autosomal dominant for achondroplasia), review the family pedigree, discuss potential outcomes, and obtain written informed consent prior to sample collection. Post‑test counselling is equally essential to interpret the molecular result and formulate a personalized clinical management plan.
Clinical Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients with severe coagulopathy or active bleeding disorders should not undergo venipuncture; alternative collection via FTA card or extracted DNA is acceptable and equally accurate.
- ER Red Flags (infants/children): Foramen magnum compression signs including bulging fontanelle, projectile vomiting, apnea, or limb weakness demand immediate emergency evaluation regardless of test timing.
- Adults: Acute neurological symptoms such as sudden weakness or loss of bladder control require urgent neurosurgical consultation.
Patient FAQ & Clinical Guidance
1. What is the FGFR3 gene test for achondroplasia?
The FGFR3 gene achondroplasia NGS test identifies mutations in the FGFR3 gene that cause the most common form of dwarfism, achondroplasia. It sequences the entire coding region to detect both common and rare pathogenic variants, enabling accurate diagnosis, family planning, and personalized management. The test is performed on peripheral whole blood and requires no special preparation.
2. Why do I need genetic counselling before and after the test?
Pre‑test genetic counselling is mandatory under UAE law to explain the inheritance pattern (autosomal dominant), draw a detailed family pedigree, and ensure informed consent. Post‑test counselling translates the molecular result into a personalised health plan and addresses reproductive options if desired. Our team includes licensed genetic counsellors available for telephonic sessions.
3. How accurate is the NGS method compared with traditional tests?
The NGS method provides over 99.9% analytical sensitivity and specificity for FGFR3 gene variants, detecting mutations even in low‑level mosaicism that Sanger sequencing occasionally misses. All reported variants are confirmed by orthogonal methods and interpreted according to ACMG guidelines. The comprehensive bioinformatics pipeline includes variant filtering, population frequency databases, and in silico prediction tools to ensure clinical validity.
UAE Regulatory & Data Privacy Adherence
Data Protection Framework: All genetic data processed by DNA Labs UAE is handled 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 information is encrypted, access‑controlled, and retained only for the legally mandated period.
Clinical Safety & Consent: Sample collection and molecular testing procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring that all clinical acts are performed with informed consent and documented professional accountability.
Laboratory Accreditation: Our facility holds DHA licensure (License No. 1143) and operates under ISO 15189 standards for medical laboratory quality and competence.
Clinical & Logistical Metadata
| Test Name | FGFR3 Gene Achondroplasia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next‑Generation Sequencing (NGS) – Illumina Platform, 300× Mean Coverage |
| ICD-10-CM Code | Q77.4 |
| LOINC Code | 92720-5 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians