Test Price
2,800 AED✅ Home Collection Available
SFTPC Gene Sequencing Test for Surfactant Metabolism Dysfunction Type 2 – Dubai, UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Result Interpretation by a Consultant Medical Geneticist.
- Pricing & Insurance: 2,800 AED. Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyses the entire coding region and flanking intronic sequences of the SFTPC gene to detect pathogenic variants causing pulmonary surfactant metabolism dysfunction type 2 (SMDP2). This rare autosomal dominant interstitial lung disease typically presents in infancy or early childhood with progressive respiratory failure. Our full-gene coverage approach maximizes diagnostic yield compared to traditional single-gene Sanger sequencing.
| Feature | Our NGS Test (SFTPC) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Methodology | Massively Parallel NGS (Full Gene & Flanking Introns) | Sanger Sequencing (Selected Exons Only) |
| Variant Detection | SNVs, Indels, CNVs – comprehensive coverage | Limited to targeted regions; may miss deep intronic/CNV variants |
| Turnaround Time | 12–15 Business Days | 4–6 Weeks (often longer with reflex testing) |
| Diagnostic Yield | >99% for coding/regulatory variants | ~85% for common mutations only |
Physician Insight & Safety Protocols
“The comprehensive NGS analysis of the SFTPC gene provides a definitive molecular diagnosis for surfactant metabolism dysfunction type 2, which is critical for guiding targeted therapies and family counseling. However, it is imperative that these results are integrated with high-resolution CT imaging and lung physiology assessments by a multidisciplinary pediatric pulmonology team. This test does not replace emergency clinical evaluation for acute respiratory distress.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Clinical Advisory
Therapeutic Continuity Requirement
Do not discontinue prescribed medication, including surfactant replacement therapy or immunosuppressants, without explicit consultation with the managing physician. Genetic test results are not an immediate substitute for ongoing acute supportive care.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Inability to obtain an adequate venous blood sample or FTA card specimen.
- Lack of legal guardian consent for minors (mandatory under Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Severe thrombocytopenia or bleeding diathesis unsuitable for phlebotomy.
Emergency Red Flags
- Acute onset of severe respiratory distress, cyanosis, or apnea in the child.
- Persistent oxygen desaturation <90% despite respiratory support.
- Signs of pulmonary hypertensive crisis – seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the purpose of the SFTPC gene test?
This NGS test identifies mutations in the surfactant protein C gene that cause pulmonary surfactant metabolism dysfunction type 2, enabling early diagnosis and management of childhood interstitial lung disease. A definitive molecular diagnosis can help avoid unnecessary lung biopsies and guide family screening.
2. How is the sample collected?
A standard peripheral venous blood sample (EDTA tube) or a single drop of blood on an FTA card is sufficient. Our ISO-certified mobile phlebotomy team conducts a painless collection at your home with full temperature-controlled cold-chain transport to the laboratory.
3. When will I receive the results?
Results are typically reported within 12 to 15 business days from receipt of the sample at our ISO 15189:2022 accredited genomics facility in Dubai Healthcare City. An express option is available upon request with a turnaround of 5–7 business days.
UAE Regulatory & Data Privacy Adherence
Fully Compliant with UAE Health & Data Privacy Regulations
This service strictly adheres to 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. Our laboratory holds ISO 15189:2022 accreditation (Medical laboratories – Requirements for quality and competence).
Clinical & Logistical Metadata
| Test Name | SFTPC Gene Sequencing Test (Surfactant Metabolism Dysfunction Type 2) |
| Price (AED) | 2,800 |
| Turnaround Time | 12–15 Business Days (Standard) / 5–7 Business Days (Express) |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene & Flanking Introns |
| ICD-10-CM Code | J84.10 (Pulmonary fibrosis, unspecified) ; P27.8 |
| LOINC Code | 82314-5 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians