Test Price
4,000 AED✅ Home Collection Available
Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test in UAE | 4,000 AED | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Clinical & Operational Excellence
- Diagnostic Sensitivity: 99.9% – Full gene coverage via bidirectional Sanger sequencing (ISO 9001:2015 certified).
- Specimen Collection: Hospital extraction only – invasive prenatal or postnatal sampling performed under sterile conditions by accredited clinicians.
- Turnaround Time: 14–21 business days from sample receipt at our Dubai Healthcare City laboratory.
- Post-Test Support: Complimentary telephonic genetic counselling session with a Consultant Medical Geneticist.
- Insurance Verification: Direct billing eligibility confirmed within 2 hours via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The FGFR3 full gene sequence analysis provides complete interrogation of all coding exons, intron-exon boundaries, and known regulatory regions of the FGFR3 gene using high-fidelity bidirectional Sanger sequencing. This molecular assay detects pathogenic single-nucleotide variants and small insertions or deletions responsible for achondroplasia, hypochondroplasia, and related FGFR3-associated skeletal dysplasias. Results are interpreted by a Consultant Medical Geneticist and integrated with clinical and radiological findings for definitive diagnosis, prenatal planning, and pre-implantation genetic counselling.
| Feature | Our Test – Full Gene Sanger Sequencing | Alternative – Targeted Mutation Panel |
|---|---|---|
| Genomic Coverage | All coding exons, splice sites, and regulatory regions | Limited to preselected hotspot mutations only |
| Analytical Sensitivity | 99.9% – Gold standard for single-gene disorders | 85–95% – May miss rare or novel variants |
| Turnaround Time | 14–21 business days | 7–14 business days |
| Regulatory Certification | DHA licensed, ISO 9001:2015, CLIA compliant | Variable – may lack full accreditation |
Physician Insight & Safety Protocols
“Full-gene FGFR3 sequencing via Sanger methodology delivers definitive molecular diagnosis for achondroplasia and related skeletal dysplasias. Comprehensive coverage of all coding exons and splice sites enables precise genotype-phenotype correlation. I strongly recommend pre-test and post-test genetic counselling for every patient, as results may carry reproductive and psychological implications that extend beyond the laboratory report. Multidisciplinary input from clinical genetics, obstetrics, and rheumatology is essential for holistic patient management.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication & Safety Advisory
Important Pre-Test Guidance
Do not discontinue any prescribed medication or alter surgical plans based solely on this test result. Always consult your treating physician for integrated clinical decision-making.
- A valid physician referral is required for testing, except for patients undergoing surgery, pregnant women, or individuals requiring the test for travel abroad.
- Results must be interpreted together with ultrasound imaging, clinical examination, and family history.
- Any unexpected or ambiguous findings should be discussed with the referring clinician before further action.
Clinical Exclusion Criteria & Red Flags
When to Delay or Avoid Testing
- Active infection or fever at the intended sample collection site – defer until resolved.
- Severe coagulopathy (INR > 2.0) when invasive prenatal sampling is planned.
- ER red flags: Seek immediate emergency care if heavy bleeding, fainting, or signs of amniotic fluid leakage occur after invasive specimen collection.
- Maternal peripheral blood alone is insufficient for prenatal diagnosis; amniotic fluid, chorionic villi, or cord blood is required.
Patient FAQ & Clinical Guidance
1. What does the FGFR3 full gene sequence test detect?
This test detects disease-causing variants across the entire FGFR3 gene, including all coding exons, splice sites, and key regulatory regions. It provides a definitive molecular diagnosis for achondroplasia, hypochondroplasia, and related skeletal dysplasias with 99.9% analytical sensitivity for the common G380R variant and rare pathogenic mutations.
2. Can this test be used for prenatal diagnosis, and what specimen is required?
Yes, the test is validated on amniotic fluid, chorionic villus sampling (CVS), and cord blood. Maternal peripheral blood alone is insufficient. Hospital extraction only – all invasive prenatal specimens must be collected by a certified obstetrician under sterile ultrasound guidance. Cold-chain transport must commence within 30 minutes to preserve DNA integrity.
3. How do I schedule the test and verify insurance coverage?
Our patient-support team coordinates hospital-based specimen collection appointments and verifies direct billing eligibility with leading UAE insurers. Send a photo of your Emirates ID and insurance card to +971 54 548 8731 via WhatsApp. You will receive a confirmation and appointment slot within 2 hours. Note: mobile home phlebotomy is not available for this test due to the invasive nature of required specimens.
4. What is the turnaround time, and how will I receive results?
The standard turnaround time is 14–21 business days from sample receipt at the laboratory. Results are delivered electronically via secure patient portal and hard copy upon request. A complimentary telephonic post-test counselling session with a Consultant Medical Geneticist is included to explain findings and guide next steps.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring secure digital health information exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – defining clinical responsibility and patient consent requirements for diagnostic procedures.
All clinical information provided on this page is for educational purposes. Patients should seek personalised medical advice from their treating physician for any health-related decisions.
Clinical & Logistical Metadata
| Test Name | Achondroplasia (FGFR3 Full Gene Sequence Analysis) |
| Price (AED) | 4,000 AED |
| Turnaround Time | 14–21 Business Days |
| Sample Type / Matrix | Amniotic Fluid, Chorionic Villi, or Cord Blood – Hospital Extraction Only – Sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety. |
| Methodology Used | Bidirectional Sanger Sequencing (Full Gene Coverage) |
| ICD-10-CM Code | Q77.4 |
| LOINC Code | 21669-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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