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Test Price

2,800 AED

✅ Home Collection Available

SCARF2 Gene Van den Ende-Gupta Syndrome Genetic Test in UAE | 2,800 AED

Executive Summary & Core Metrics

Executive Summary: This definitive genetic test uses advanced Next‑Generation Sequencing (NGS) to detect pathogenic variants in the SCARF2 gene for diagnosing Van den Ende‑Gupta syndrome. With 99.9% diagnostic sensitivity and ISO 9001:2015‑certified cold‑chain logistics, we deliver clinically actionable results within 3–4 weeks. UAE patients benefit from VIP mobile phlebotomy, direct insurance billing verification via WhatsApp at +971 54 548 8731, and mandatory post‑test telephonic clinical guidance.

  • ✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing
  • ✅ Premium Logistics: Hospital‑Grade Home Collection with ISO Cold‑Chain Transport & VIP Mobile Phlebotomy
  • ✅ Clinical Guidance: Mandatory Telephonic Post‑Test Consultation for Result Interpretation
  • ✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731

Test Overview & Methodology

This test sequences the entire coding region of the SCARF2 gene to identify pathogenic variants responsible for Van den Ende‑Gupta syndrome, a rare autosomal recessive disorder presenting with blepharophimosis, arachnodactyly, and joint contractures. Using Next‑Generation Sequencing (NGS) with Sanger confirmation, the assay covers all exons and flanking intronic regions for maximum diagnostic yield.

Feature Our Test (DNA Labs UAE) Closest Alternative
Precision >99.9% sensitivity via NGS + Sanger confirmation 90–95% sensitivity (Sanger sequencing only)
Methodology NGS covering all exons + flanking intronic regions Conventional Sanger sequencing of selected exons
Turnaround 3–4 Weeks 6–8 Weeks

Physician Insight & Safety Protocols

“As a DHA‑licensed Consultant Medical Genetics, I emphasise that the SCARF2 NGS test must be interpreted together with comprehensive clinical evaluation and genetic counselling. A positive result confirms Van den Ende‑Gupta syndrome and enables targeted multidisciplinary care; a negative result does not exclude all genetic disorders. Always correlate with phenotype and family history.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory – Genetic Counselling & Consent

  • Pre‑test genetic counselling is strongly recommended to discuss implications, risks, and benefits.
  • Informed consent must be obtained prior to sample collection, including consent for genetic testing and data handling under Federal Decree‑Law No. 45 of 2021 (PDPL).
  • Minors require explicit parental or guardian consent in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Exclusion Criteria & ER Red Flags

  • Not for acute or emergency diagnosis.
  • Patients with severe bleeding disorders must inform the phlebotomist prior to sample collection.
  • No contraindication to venipuncture, but avoid if active infection at the puncture site.
  • Seek immediate medical care if after collection you experience severe bleeding, expanding hematoma, fever, or systemic symptoms.

Patient FAQ & Clinical Guidance

1. What does the SCARF2 gene test diagnose?

This identifies pathogenic variants in the SCARF2 gene to confirm Van den Ende‑Gupta syndrome, a rare disorder characterised by distinctive facial features, long slender fingers, and joint contractures.

2. How is the sample collected, and is home service available?

A certified DHA‑licensed phlebotomist collects a small venous blood sample (3–5 mL in EDTA tube) at your home using ISO‑certified cold‑chain transport. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection is available daily from 8 AM to 11 PM.

3. When will I receive my results and how are they explained?

Results are securely delivered within 3 to 4 weeks through our patient portal, followed by a mandatory telephonic consultation with a genetic counsellor who interprets the findings and guides subsequent steps.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License No. 1143 and 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. All genetic data is handled with strict confidentiality, encrypted storage, and access controls. Patient consent is obtained in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name SCARF2 Gene Van den Ende‑Gupta Syndrome Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood (3–5 mL in EDTA tube)
Methodology Used Next‑Generation Sequencing (NGS) with Sanger confirmation
ICD-10-CM Code Q87.8
LOINC Code 95149-3
DHA Facility License & Address DHA 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