Test Price
2,800 AED✅ Home Collection Available
FGD1 Gene Faciogenital Dysplasia Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Certainty >99.9% Diagnostic Sensitivity via ISO‑accredited NGS processing, aligned with DHA/MOHAP standards.
- ✓ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Telephonic post‑test interpretation session with a Consultant Medical Genetics specialist.
- ✓ Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FGD1 Gene Faciogenital Dysplasia Genetic Test employs next‑generation sequencing (NGS) to detect pathogenic variants in the FGD1 gene, the molecular cause of Aarskog‑Scott syndrome (faciogenital dysplasia). This test delivers a definitive molecular diagnosis for affected individuals and carriers, guiding clinical management and family planning. The methodology includes full coding region analysis and copy number variant detection, achieving a diagnostic sensitivity exceeding 99.9% for point mutations and small insertions/deletions.
| Parameter | Our Test – UAE Premium | Closest Alternative |
|---|---|---|
| Methodology | NGS (Next‑Generation Sequencing), full coding region ± copy number | Sanger sequencing (single‑exon, lower sensitivity) |
| Diagnostic Sensitivity | >99.9% for FGD1 point mutations & small indels | 85–90% (misses deep intronic variants) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Types Accepted | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood Only |
| Pre‑Test Genetic Counselling | Included (pedigree chart & informed consent) | Often not included |
Physician Insight & Safety Protocols
“Pursuing a genetic diagnosis for a child with suspected Aarskog-Scott syndrome is a significant step. The FGD1 gene test provides a precise molecular answer, but it must always be interpreted alongside detailed clinical evaluation and family history. A positive result is not a standalone endpoint; it opens the door to targeted surveillance, early therapeutic interventions, and accurate recurrence risk counseling for the family. Genetic testing should be complemented by appropriate medical follow-up and never replace prescribed treatments.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Safety Advisory
Do not discontinue any prescribed medication without consulting your attending physician. Genetic test results are an important diagnostic tool, but they must be integrated with ongoing clinical management. If you have questions about your current treatment plan, speak with your healthcare provider before making changes.
Patient Exclusion Criteria & Red Flags
- Exclusion: Inability to obtain valid informed consent (e.g., minors without legal guardian present).
- Exclusion: Active uncontrolled infection at venipuncture site; sample haemolysis may require recollection.
- Red Flag – Seek Emergency Care: Sudden change in facial or genital swelling, severe pain, or acute urinary retention.
- Red Flag – Seek Emergency Care: New‑onset seizures or neurological deterioration in a child with dysmorphic features.
Patient FAQ & Clinical Guidance
1. What is the FGD1 gene test and why is it performed?
This NGS-based genetic test identifies FGD1 gene mutations responsible for Aarskog‑Scott syndrome, providing a definitive molecular diagnosis. It is indicated when a child presents with characteristic facial features (hypertelorism, broad nasal bridge), short stature, and genital anomalies. The test also helps determine carrier status in relatives and guides prenatal or preimplantation genetic diagnosis.
2. How is the sample collected and what is the turnaround time?
Our VIP mobile phlebotomy service collects a standard blood sample (or dried blood spot) at your home between 8 AM and 11 PM, with same‑day temperature-controlled cold‑chain transport to our ISO‑accredited lab. The entire process ensures DNA integrity. Results are ready in 3–4 weeks. You may also submit previously extracted DNA or an FTA card.
3. How reliable are the results and what does a positive finding mean?
The test achieves over 99.9% diagnostic sensitivity for FGD1 mutations, validated by ISO 9001:2015 protocols and continuous external quality assessment. A positive result confirms the genetic basis of Aarskog‑Scott syndrome, enabling targeted therapy, surveillance for associated complications (e.g., orthopedic issues, cardiac anomalies), and accurate recurrence risk counselling. Negative results may require further investigation for differential diagnoses.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal laws governing health data and personal privacy. All genetic test results are protected under:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring your genetic data is collected, stored, and processed with strict confidentiality and consent protocols.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing the secure electronic transmission and storage of health information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – safeguarding patient safety and clinical accountability during sample collection and reporting.
Your trust and data security are our priority.
Clinical & Logistical Metadata
| Parameter | Detail |
|---|---|
| Test Name | FGD1 Gene Faciogenital Dysplasia Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full coding region & copy number analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 83285-7 |
| DHA Facility License & Address | License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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