Test Price
2,800 AEDโ Home Collection Available
CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 Genetic Test in UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing and CAP/CLIA Validated NGS.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
Clinical Guidance: Telephonic Post-Test Genetic Counselling for result interpretation and family planning.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This comprehensive CSF2RB gene sequencing test detects pathogenic mutations causing Surfactant Metabolism Dysfunction Type 5, also known as pulmonary alveolar proteinosis, using full-gene Next-Generation Sequencing (NGS). The analysis covers all coding exons, splice sites, and key regulatory regions to enable early diagnosis, informed prognosis, and personalized management for affected infants, children, and adults.
| Feature | Our Test (CSF2RB NGS) | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing (coding + regulatory regions) | Limited exon panel or MLPA |
| Method | Next-Generation Sequencing (NGS) โ CAP/CLIA validated | Sanger sequencing or targeted analysis |
| Turnaround Time | 3 โ 4 Weeks | 4 โ 6 Weeks |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics โ DHA Registration ID: 9294403):
As a DHA-licensed Consultant Medical Genetics specializing in hereditary pulmonary disorders, I recognize that genetic testing for rare surfactant dysfunction syndromes can be emotionally challenging for families. This test must always be interpreted alongside clinical, radiological, and histopathological findings; a negative sequencing result does not completely exclude the condition, as pathogenic variants may reside in deep intronic or promoter regions not captured by standard NGS. I strongly recommend pre-test and post-test genetic counselling to ensure fully informed medical decision-making and appropriate long-term surveillance.
โ Advisory โ Medication Continuity
Do not discontinue, adjust, or initiate any prescribed medication, including pulmonary surfactants or immunosuppressive therapy, without explicit consultation with your treating physician. Genetic test results alone do not warrant changes to active treatment regimens.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with active untreated systemic infections, acute febrile illness, or inability to provide legally valid informed consent.
- Red Flag: If the patient exhibits acute respiratory distress, rapidly worsening hypoxemia, or failure to thrive in infants, seek immediate emergency medical evaluation โ do not await genetic results.
- Red Flag: Clinical suspicion of telomere biology disorders, Hermansky-Pudlak syndrome, or other syndromic features requires extended multidisciplinary consultation prior to genetic testing.
Patient FAQ & Clinical Guidance
1. When should I consider this CSF2RB genetic test for surfactant dysfunction type 5?
Expert Answer: This test is recommended for infants, children, or adults presenting with unexplained pulmonary alveolar proteinosis, chronic respiratory distress, recurrent lung infections, or a positive family history of surfactant metabolism dysfunction. It is also indicated for individuals with radiological findings consistent with proteinaceous alveolar filling and inconclusive bronchoalveolar lavage results.
2. How accurate is the Next-Generation Sequencing test for detecting CSF2RB mutations?
Expert Answer: Our NGS panel detects more than 99% of pathogenic single nucleotide variants and small insertions or deletions within the CSF2RB coding regions and splice junctions, with validated analytical sensitivity and specificity meeting CAP and CLIA standards. Confirmatory Sanger sequencing is performed for all clinically actionable variants.
3. What sample types are accepted and how does the home collection process work?
Expert Answer: We accept peripheral whole blood (EDTA), extracted DNA, or a single blood spot on an FTA card. A DHA-certified phlebotomist arrives at your residence within the 8 AM to 11 PM window, ensuring cold-chain integrity, sterile technique, and minimal discomfort. All samples are transported under temperature-controlled conditions to our ISO-accredited laboratory.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
Your genetic data is processed in full compliance 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 clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License No. 1143 and operates under ISO 9001:2015 quality management standards (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM โ 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Analysis |
| ICD-10-CM Code | J84.01 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address Invariants | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians