Test Price
2,800 AEDโ Home Collection Available
CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity and specificity via ISO 9001:2015 accredited NGS platform and ACMG-classified bioinformatics pipeline.
Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Post-test telephonic genetic counselling provided by a board-certified Consultant Medical Geneticist.
Insurance & Billing: Direct billing verification and insurance pre-approval via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CSF2RA gene encodes the alpha subunit of the granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor, which is essential for surfactant catabolism by alveolar macrophages. Pathogenic variants in CSF2RA lead to Surfactant Metabolism Dysfunction Type 4 (SMDP4), a rare autosomal recessive disorder presenting as progressive interstitial lung disease in neonates and infants. Early molecular diagnosis is critical for targeted management, including whole lung lavage, GM-CSF therapy, and lung transplantation evaluation.
Clinical Specialties: Medical Genetics (diagnosis & family counselling), Pediatric Pulmonology (lung-targeted management), Neonatology (acute neonatal intensive care).
| Feature | Our NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Precision | Full gene sequencing including intron-exon junctions, copy number variant (CNV) analysis | Targeted hotspot mutations only |
| Methodology | Next-Generation Sequencing (NGS) with >100x mean coverage, ACMG variant interpretation | Sanger sequencing (low-throughput, limited to known variants) |
| Turnaround Time | 3โ4 weeks | 6โ8 weeks for full gene |
| Clinical Accuracy | 99.9% analytical sensitivity; validated against CAP/CLIA standards | High specificity but misses novel or deep intronic mutations |
Physician Insight & Safety Protocols
โAccurate molecular characterization of CSF2RA-related surfactant dysfunction is game-changing for neonatal pulmonology. Our comprehensive NGS panel ensures high-fidelity detection of sequence variants and copy number changes, enabling precise genetic counselling and timely, life-saving interventions. However, genetic findings must always be correlated with clinical phenotype and imaging for definitive diagnosis.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403)
Medication & Clinical Advisory
โ ๏ธ Critical Advisory: Do not discontinue or alter prescribed respiratory support or corticosteroid therapy without consulting the managing pulmonologist.
Abrupt cessation of surfactant therapy, ventilatory support, or immunosuppressive regimens can precipitate acute respiratory decompensation, rapid clinical deterioration, and life-threatening hypoxemia. Any adjustments must be performed under strict inpatient supervision.
Safety Exclusion Criteria & ER Red Flags
Exclusion Criteria for Home Collection
- Patients with active respiratory failure requiring invasive mechanical ventilation โ home phlebotomy deferred until clinical stabilization under specialist care.
- Neonates weighing less than 2.5 kg for capillary blood collection; cord blood samples are not accepted for this assay.
Emergency Red Flags (Seek Immediate Care)
- Severe tachypnea, intercostal retractions, cyanosis, or oxygen saturation persistently below 90% at rest.
- Sudden onset lethargy, apnea spells, bradycardia, or altered consciousness โ call 998 immediately.
Patient FAQ & Clinical Guidance
1. What is the CSF2RA gene test, and why is it needed?
This advanced diagnostic test utilizes next-generation sequencing to analyze the entire CSF2RA gene coding region and intron-exon boundaries. It is specifically designed to identify pathogenic mutations that cause Surfactant Metabolism Dysfunction Type 4 (SMDP4), a severe neonatal interstitial lung disease. Early genetic confirmation is vital for guiding targeted respiratory therapies, transplant evaluation, and providing precise familial recurrence risk counselling.
2. How is the sample collected, and what preparation is needed?
Sample collection is performed via a standard peripheral venipuncture (2โ5 ml whole blood in an EDTA tube) or a minimally invasive dried blood spot (DBS) collection on an FTA card for neonates. Our trained pediatric phlebotomists perform the collection in the comfort of your home using specialized low-pain techniques. No special preparation or fasting is required for this test.
3. When will I receive the results, and how are they interpreted?
Results are typically available within 3 to 4 weeks from sample receipt. You will receive a comprehensive report detailing variant classification according to ACMG guidelines, clinical significance, and specific recommendations for management and follow-up. A mandatory telephonic genetic counselling session with a Consultant Medical Geneticist is provided to fully explain the findings and their implications for the patient and family members.
UAE Regulatory & Data Privacy Adherence
Your data is fully protected under UAE law.
โข Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personal identifiers are processed, stored, and transmitted in strict compliance with PDPL requirements for consent, data minimization, and patient rights.
โข Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health infrastructure and tele-genetic counselling services adhere to the highest standards of ICT security and interoperability mandated by the UAE health sector.
โข Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, including sample collection and result disclosure, follow the strict liability and informed consent frameworks established by this law.
โข DHA Regulatory Compliance: DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA License No. 1143) and operates in accordance with DHA standards for genetic testing and laboratory diagnostics.
Clinical & Logistical Metadata
| Test Name | CSF2RA Gene Sequencing (Surfactant Metabolism Dysfunction Type 4) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Whole Gene Sequencing & CNV Analysis |
| ICD-10-CM Code | J84.89 (Other specified interstitial pulmonary diseases) |
| LOINC Code | 81303-4 (CSF2RA gene full mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No: 1143 Corporate Lab: DNA Labs UAE Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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