Test Price
2,800 AED✅ Home Collection Available
FOXP3 Gene Immunodysregulation, Polyendocrinopathy, and Enteropathy, X‑Linked (IPEX) Genetic Test in Dubai
Executive Summary & Core Metrics
This next‑generation sequencing (NGS) test analyzes the complete coding region of the FOXP3 gene to diagnose IPEX syndrome with a diagnostic sensitivity of 99.9% through ISO‑accredited processing. The assay identifies pathogenic variants responsible for immune dysregulation, polyendocrinopathy, and severe enteropathy in suspected X‑linked pedigrees.
- Analytical Accuracy: 99.9% diagnostic sensitivity via full‑gene NGS with confirmatory Sanger validation.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- Post‑Test Support: Telephonic clinical guidance for result interpretation and referral coordination.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
- Report Generation: Comprehensive PDF report with variant classification per ACMG guidelines and ICSI recommendations.
Test Overview & Methodology
The FOXP3 full‑gene sequencing assay employs paired‑end NGS on an Illumina platform with deep coverage (minimum 100×) across all 12 coding exons and flanking intronic regions. The test detects single‑nucleotide variants, small insertions/deletions, and splice‑site alterations associated with IPEX syndrome, enabling early immunomodulatory intervention and genetic counselling for affected families.
This test is indicated for male infants and children presenting with the classical triad of intractable diarrhoea, severe eczematous dermatitis, and early‑onset autoimmune endocrinopathy, particularly when an X‑linked inheritance pattern is suspected. Genetic confirmation reduces diagnostic delay, guides haematopoietic stem cell transplantation planning, and informs recurrence risk for future pregnancies.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | Full‑gene NGS with 99.9% analytical sensitivity | Targeted mutation panels (limited coverage) |
| Method | Next‑Generation Sequencing (NGS) with ACMG‑guided variant interpretation | Sanger sequencing (single exon or hotspot focus) |
| Turnaround | 3 to 4 Weeks | 6 to 8 Weeks |
Physician Insight & Safety Protocols
“A positive FOXP3 variant confirms the diagnosis of IPEX syndrome with high confidence, but the phenotypic spectrum can range from severe neonatal disease to milder, later‑onset presentations. Conversely, a negative sequencing result does not entirely exclude IPEX if deep‑intronic or regulatory deletions are present—comprehensive immunological profiling and long‑term clinical follow‑up remain essential. I strongly urge families to complete pre‑test genetic counselling to fully understand the implications for the child and extended family.”
– Lina Osama Zaki Quteineh Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue or modify any prescribed immunosuppressive, endocrine, or supportive therapy without direct consultation with your treating physician. Genetic test results should be used to guide, not replace, ongoing clinical management.
Exclusion Criteria & Urgent Red Flags
- Not suitable for asymptomatic minors without explicit written informed consent from a parent or legal guardian, in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Contraindicated for individuals with active severe psychiatric instability who are unable to provide voluntary informed consent independently.
- Pregnant women seeking this test for non‑medical purposes must first complete a structured genetic counselling session with a licensed genetic counsellor.
- Seek emergency care immediately if you or your child experience: severe allergic reaction, seizure, acute abdominal pain, or syncope after the blood draw.
Patient FAQ & Clinical Guidance
1. What is the FOXP3 gene test, and when is it needed?
The FOXP3 NGS test diagnoses IPEX syndrome by sequencing the entire FOXP3 gene for pathogenic variants. It is indicated in infants or children with unexplained severe eczema, intractable diarrhoea, type‑1 diabetes‑like symptoms, and recurrent infections, especially when an X‑linked inheritance pattern is suspected. Early molecular diagnosis enables prompt initiation of immunomodulatory therapy and haematopoietic stem cell transplantation evaluation.
2. How should I prepare for the test, and what sample is required?
No fasting or special preparation is needed. Acceptable specimens include 3–5 mL of peripheral whole blood collected in an EDTA tube, extracted genomic DNA, or a dried blood spot on an FTA card. Pre‑test genetic counselling to construct a detailed three‑generation pedigree is mandatory and can be arranged during the home collection visit. Our VIP mobile phlebotomy team operates daily from 8 AM to 11 PM.
3. What does a positive or negative result mean, and are there limitations?
A positive FOXP3 mutation confirms IPEX syndrome with near‑100% certainty, guiding urgent immunomodulatory therapy. A negative result reduces but does not completely eliminate disease risk because rare deep‑intronic or regulatory region deletions may escape detection by standard NGS. Follow‑up clinical correlation with immunological and endocrinological assessment remains essential. Our report includes variant classification per ACMG guidelines and recommendations for further testing if clinically warranted.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
All genetic testing and data handling procedures at DNA Labs UAE comply fully with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), which governs the collection, storage, processing, and sharing of genetic and health‑related personal data. Additionally, our laboratory operations adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health records and telemedicine practices. Clinical safety and informed consent protocols are aligned with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Data Encryption: All genetic data is encrypted at rest and in transit using AES‑256 standards.
- Access Control: Role‑based access with multi‑factor authentication; data is never shared with third parties without explicit patient consent as required by PDPL.
- Retention Policy: Genetic data is retained for a minimum of 10 years per UAE health authority guidelines, then securely destroyed.
- ISO Certification: ISO 9001:2015 Certified – Cert: INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | FOXP3 Gene Full Sequencing (NGS) – IPEX Syndrome Panel |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube), Extracted Genomic DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Paired‑end Illumina platform with 100× minimum coverage; variant interpretation per ACMG/AMP guidelines |
| ICD-10-CM Code | E31.0 (Autoimmune polyendocrinopathy) |
| LOINC Code | 98979-9 (Genetic analysis of FOXP3 gene) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians