Test Price
2,800 AEDโ Home Collection Available
FOXF1 Gene NGS Test for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Executive Summary & Core Metrics
Diagnostic Sensitivity: 99.9% across full FOXF1 coding region via ISO 9001:2015 certified NGS workflow.
Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Support: Post-test telephone consultation and mandatory genetic counselling for all positive results.
Turnaround Time: 3 to 4 weeks from sample receipt to final molecular report.
Test Overview & Methodology
This next-generation sequencing (NGS) test interrogates the entire coding region and conserved splice sites of the FOXF1 gene to definitively diagnose alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). ACDMPV is a rare, severe neonatal disorder characterised by persistent pulmonary hypertension, refractory hypoxaemia, and characteristic histopathological findings. The assay achieves 99.9% analytical sensitivity and specificity, providing unambiguous molecular confirmation essential for clinical management and recurrence risk counselling.
| Feature | Our FOXF1 NGS Test | Alternative (Targeted Sanger) |
|---|---|---|
| Analytical Precision | 99.9% sensitivity, full gene coverage including deep intronic regions | Limited to known hotspot variants |
| Methodology | Next-Generation Sequencing (NGS) | Sanger sequencing |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
โFamilies facing a newborn with unexplained refractory respiratory failure endure an agonising uncertainty. The FOXF1 NGS assay delivers the definitive molecular answer needed to guide clinical decisions and provide accurate recurrence risk estimates. Every result is reviewed within the context of clinical and imaging findings, and our multidisciplinary team ensures compassionate support throughout the diagnostic journey.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Safety Notice
โ Critical Warning
Do not discontinue, modify, or withhold any prescribed respiratory support, oxygen therapy, or pulmonary vasodilator medications for your infant without explicit instruction from the attending neonatologist or paediatric intensivist. Genetic testing is a diagnostic adjunct and must never delay urgent clinical intervention.
Exclusion Criteria & Emergency Red Flags
- Unstable or critically ill neonates requiring intensive care are not candidates for home phlebotomy; all sample collection must occur within an accredited hospital setting.
- If the infant develops severe cyanosis, apnoeic episodes, or acute worsening of tachypnoea, seek emergency medical assistance immediately without waiting for genetic test results.
- This molecular assay is not a substitute for emergent clinical management; the safety and stability of the child always take precedence over laboratory logistics.
- Parents who decline blood draw may request a saliva-based or FTA card collection kit after consultation with the ordering physician.
Patient FAQ & Clinical Guidance
1. What is the FOXF1 gene test, and who should consider it?
The FOXF1 gene NGS test definitively identifies pathogenic variants causing alveolar capillary dysplasia with misalignment of pulmonary veins, a rapidly progressive neonatal lung disease. It is strongly recommended for infants with unexplained persistent pulmonary hypertension refractory to standard therapy, siblings of confirmed ACDMPV cases, and parents planning future pregnancies after a previous diagnosis.
2. How is the sample collected, and is home collection available in the UAE?
A whole blood sample, extracted DNA, or a dried blood spot on an FTA card can be collected at home by our ISO-certified VIP mobile phlebotomy team operating throughout the UAE daily from 8 AM to 11 PM. All specimens are transported using validated temperature-controlled cold-chain logistics to ensure absolute molecular integrity.
3. What does a positive result mean for my baby and family?
A positive result confirms ACDMPV at the molecular level, which carries a guarded prognosis yet empowers families with precise recurrence risk estimates and enables informed reproductive choices including prenatal diagnosis and preimplantation genetic testing. Formal post-test genetic counselling with a board-certified medical geneticist is mandatory to address all clinical, emotional, and family planning implications.
UAE Regulatory & Data Privacy Adherence
This laboratory service fully complies 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-controlled, and processed solely for diagnostic purposes with explicit patient consent. Clinical safety and patient consent protocols align with Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and operates in strict accordance with Dubai Health Authority and Ministry of Health and Prevention standards.
Clinical & Logistical Metadata
| Test Name | FOXF1 Gene NGS Test for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole blood, Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q33.8 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | DHA License 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians