Test Price
1,200 AEDโ Home Collection Available
Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C) โ Molecular Genetic Diagnostic in UAE
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% detection rate for FGFR3 G1138A and G1138C pathogenic variants via ISO-accredited Sanger sequencing.
- Specimen Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ available daily from 8 AM to 11 PM.
- Post-Test Guidance: Telephonic clinical interpretation and genetic counseling referral coordinated by the reporting consultant.
- Insurance & Billing: Direct billing verification and pre-authorization support via WhatsApp +971 54 548 8731.
- Price: 1,200 AED inclusive of sample collection, sequencing, and clinical report.
Test Overview & Methodology
The Achondroplasia Mutation Analysis is a targeted molecular diagnostic assay designed to detect the two most common pathogenic variants in the FGFR3 gene โ c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg). These variants account for more than 99% of achondroplasia cases worldwide. The test employs gold-standard Sanger sequencing, providing definitive genotype confirmation essential for prenatal screening, pediatric evaluation, and family genetic counseling in the UAE healthcare context.
| Feature | DNA Labs UAE โ Targeted FGFR3 Assay | Broad NGS Skeletal Panel |
|---|---|---|
| Precision | Single-nucleotide resolution at codons 1138A/C | Multi-gene coverage; may require confirmatory Sanger |
| Method | Gold-standard Sanger sequencing (ISO 9001:2015) | Next-generation sequencing with bioinformatics pipeline |
| Turnaround | 10โ12 working days | 14โ21 working days |
Physician Insight & Safety Protocols
"A positive FGFR3 G1138A or G1138C variant confirms the molecular diagnosis of achondroplasia with high certainty. However, the result must always be interpreted alongside clinical and radiological findings, and negative sequencing does not exclude other skeletal dysplasias or rare FGFR3 mutations beyond the targeted hotspots. Comprehensive pre- and post-test genetic counseling by a board-certified clinical geneticist is mandatory. This test is not a substitute for multidisciplinary skeletal dysplasia evaluation."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Critical Advisory โ Medication & Clinical Decision-Making
Do not alter or discontinue prescribed therapies solely based on genetic test results.
Genetic findings are intended to inform clinical management in conjunction with a treating physician. All therapeutic adjustments require independent medical evaluation and ongoing monitoring.
Exclusion Criteria & Emergency Red Flags
- Patients with active bleeding disorders or severe thrombocytopenia โ alternative specimen collection methods may be required; consult with attending hematologist.
- Suspected acute spinal cord compression, cauda equina syndrome, or rapidly progressive limb deformity โ seek urgent neurosurgical or orthopedic evaluation before elective genetic testing.
- Prenatal testing via amniocentesis or chorionic villus sampling (CVS) โ requires separate maternal consent, precise gestational dating, and is conducted exclusively within a hospital setting.
Patient FAQ & Clinical Guidance
1. What is the clinical sensitivity of this FGFR3 mutation analysis?
Our targeted Sanger sequencing assay detects the G1138A and G1138C variants with greater than 99.9% analytical sensitivity and specificity, covering the two mutations responsible for virtually all confirmed achondroplasia cases worldwide.
2. Is a doctorโs prescription required to book this test?
Yes. A valid prescription from a licensed physician is mandatory for genetic testing in the UAE under applicable regulatory frameworks. Exceptions may apply for travel clearance, pre-conception planning, or surgical preparation โ verification is completed at the time of booking.
3. How is the blood sample collected and transported?
A routine peripheral whole blood draw is performed by our trained phlebotomist during a VIP home visit (daily 8 AMโ11 PM). The specimen is packaged in ISO-certified cold-chain containers and couriered directly to the CAP-accredited genetics laboratory. No fasting is required.
4. Can this test be performed during pregnancy?
Yes, for prenatal diagnosis. Invasive sampling (amniocentesis or CVS) must be performed in a hospital setting by an obstetric specialist. Maternal consent and gestational age verification are mandatory. Non-invasive prenatal screening does not replace diagnostic Sanger sequencing.
5. What does a negative result mean?
A negative result rules out the two common FGFR3 hotspot mutations. However, it does not exclude achondroplasia caused by rare FGFR3 variants (e.g., c.1123G>T, c.1150A>C) or other skeletal dysplasias (e.g., hypochondroplasia, thanatophoric dysplasia). Further genetic testing may be indicated based on clinical presentation.
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) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted, access-restricted, and processed under strict clinical governance frameworks. Patient consent and medical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and adheres to DHA standards for molecular genetic testing.
Clinical & Logistical Metadata
| Test Name | Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C) |
| Price (AED) | 1,200 AED |
| Turnaround Time | 10โ12 Working Days |
| Sample Type / Matrix | Peripheral Whole Blood (3โ5 mL EDTA) |
| Methodology Used | Gold-Standard Sanger Sequencing (Bidirectional) |
| ICD-10-CM Code | Q77.4 (Achondroplasia) |
| LOINC Code | 91761-6 (FGFR3 gene targeted mutation analysis in Blood by Sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians