Test Price
2,800 AED✅ Home Collection Available
FGD1 Gene X‑Linked Intellectual Disability Type 16 (MRX16) NGS Test – Dubai Healthcare City
Executive Summary & Core Metrics
The FGD1 gene next‑generation sequencing (NGS) test is a definitive molecular diagnostic for X‑linked intellectual disability type 16 (MRX16). Performed on the Illumina NovaSeq X Plus platform, it delivers 99.9% diagnostic sensitivity for single‑nucleotide variants, insertions/deletions, and copy‑number changes across all 18 exons and flanking regions. Turnaround time is 3–4 weeks. UAE patients benefit from VIP mobile phlebotomy (8 AM–11 PM, temperature‑controlled cold‑chain), direct insurance pre‑authorization via WhatsApp, and a complimentary 20‑minute post‑test tele‑consultation with a DHA‑licensed consultant medical geneticist. Price: 2,800 AED. DHA Facility License: 1143.
Test Overview & Methodology
The FGD1 NGS test fully sequences the faciogenital dysplasia 1 gene on Xp11.22 to detect pathogenic variants responsible for X‑linked intellectual disability type 16 (Aarskog‑Scott spectrum). It is the gold‑standard molecular investigation for families with a suggestive pedigree. The table below contrasts our protocol with traditional Sanger sequencing.
| Feature | Our Test (NovaSeq X Plus) | Competitor / Sanger Sequencing |
|---|---|---|
| Methodology | NGS with 30× mean coverage, CNV calling | Sanger sequencing (exon‑by‑exon) |
| Target Region | All 18 exons + 10 kb flanking intronic/splice regions | Often limited to coding exons only |
| Sensitivity | 99.9% for SNVs, insertions/deletions up to 50 bp | ~95% for coding SNVs |
| Turnaround | 3–4 weeks (expedited option available) | 6–8 weeks |
| UAE Home Collection | 8 AM–11 PM, cold‑chain, ISO 9001 | Clinic visit only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA 9294403): “A positive FGD1 result confirms the molecular diagnosis of X‑linked intellectual disability type 16. This information guides family genetic counselling and informs early intervention strategies. We offer a dedicated 20‑minute post‑test tele‑consultation to review results and coordinate care with your neurologist.”
Medication Advisory
Do not discontinue any prescribed medication without consulting the treating physician. Genetic testing itself does not require medication cessation, but please disclose all medications during pre‑test counselling as some may affect sample quality.
Exclusion Criteria & Emergency Red Flags
- Patient is hemodynamically unstable or unable to provide 2 mL blood safely.
- Severe thrombocytopenia (platelets < 30,000/µL) – risk of hematoma from venipuncture.
- Active febrile infection ≥38.5 °C – reschedule after recovery.
- ER Red Flag: Sudden loss of consciousness, convulsions, or acute respiratory distress in the child; proceed to the nearest DHA‑licensed emergency department.
Patient FAQ & Clinical Guidance
1. What does the FGD1 NGS test detect and how does it help my child’s condition?
The test identifies pathogenic variants in the entire FGD1 gene, confirming an X‑linked intellectual disability diagnosis. This definitive molecular data enables tailored early intervention programmes, precise genetic counselling for future siblings, and exclusion of other metabolic or structural brain disorders, all within a single, comprehensive assay.
2. Why is pre‑test genetic counselling mandatory in the UAE?
Pre‑test genetic counselling builds an accurate pedigree, explains X‑linked inheritance risks, and obtains legally valid informed consent as mandated by 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. This session, conducted by our DHA‑certified team, ensures families fully understand possible outcomes and protects your child’s data under UAE privacy laws.
3. How is the 2,800 AED cost justified and can insurance cover it?
The 2,800 AED price encompasses next‑generation sequencing reagents, multi‑step bioinformatics interpretation by PhD analysts, ISO 9001:2015 quality management, and a dedicated 20‑minute post‑test clinical interpretation. Most UAE insurers cover medically indicated genetic testing for intellectual disability; we verify your policy directly via WhatsApp (+971 54 548 8731) and submit pre‑authorization before scheduling.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
- DHA Facility License: 1143
- ISO 9001:2015 Certified
- Data Protection: Fully compliant with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Health ICT: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Medical Liability: Governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability
- Patient Consent: Informed consent obtained in accordance with UAE medical liability provisions
Clinical & Logistical Metadata
| Test Name | FGD1 Gene Full Sequencing (X‑Linked Intellectual Disability Type 16) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (expedited option available) |
| Sample Type / Matrix | Peripheral Whole Blood – 2 mL collected in EDTA tube (VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina NovaSeq X Plus, 30× mean coverage, CNV calling |
| ICD-10-CM Code | F70.0 |
| LOINC Code | 72670-8 |
| DHA Facility License & Laboratory Address Invariants | License 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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