Test Price
2,800 AED✅ Home Collection Available
SKIV2L Gene Trichohepatoenteric Syndrome Type 2 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary:
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM) with ISO Certified chain of custody.
Clinical Guidance: Telephonic Post-Test result interpretation by DHA-licensed genetics specialists.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SKIV2L gene test analyzes the entire coding sequence of the SKIV2L gene using Next-Generation Sequencing (NGS) to confirm Trichohepatoenteric Syndrome Type 2 (THES2), a rare autosomal recessive disorder characterized by intractable diarrhea, facial dysmorphism, hair shaft abnormalities, and liver disease. This test provides definitive molecular confirmation for patients presenting with clinical suspicion of THES2, enabling accurate diagnosis, carrier screening, and informed family planning.
| Feature | Our Test (ISO 9001:2015) | Alternative Lab |
|---|---|---|
| Precision | Full gene NGS, 99.9% sensitivity | Sanger sequencing, lower coverage |
| Methodology | Next-Generation Sequencing (Illumina NovaSeq) | Targeted PCR + Sanger |
| Turnaround Time | 3–4 Weeks (Express option available) | 4–6 Weeks |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics with extensive experience in diagnosing rare autosomal recessive disorders, I confirm that targeted SKIV2L gene sequencing provides definitive molecular confirmation for Trichohepatoenteric Syndrome Type 2. However, these results must be interpreted alongside clinical presentation and family pedigree analysis. Never alter or discontinue prescribed therapies solely based on genetic findings without consulting your treating physician. Genetic test results are one component of a comprehensive diagnostic workup, not a standalone diagnosis." – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Advisory – Medication Continuation
Do not discontinue any prescribed medication or therapy without first consulting your treating physician. Genetic results should be integrated into your overall clinical management plan under the guidance of your healthcare provider.
Exclusion Criteria & Emergency Red Flags
- This test is not suitable for patients with a known alternative diagnosis that fully explains all presenting symptoms.
- Active severe gastrointestinal bleeding or acute liver failure precluding safe sample collection; postpone testing until clinically stable.
- ER Red Flags: Sudden onset of bloody diarrhea, jaundice, or severe dehydration require immediate medical attention — do not wait for genetic results.
- Minors: Parental consent mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability; genetic counseling required prior to testing.
Patient FAQ & Clinical Guidance
1. What is the SKIV2L gene test and what does it diagnose?
Quick Answer: SKIV2L gene NGS test detects mutations causing Trichohepatoenteric Syndrome Type 2 with 99.9% accuracy.
The SKIV2L test uses advanced Next-Generation Sequencing to read the complete coding region of the SKIV2L gene. This identifies pathogenic variants responsible for Trichohepatoenteric Syndrome Type 2 (THES2), a multisystem disorder characterized by early-onset intractable diarrhea, facial dysmorphism, hair shaft abnormalities, and liver disease. The test helps in confirming a clinical diagnosis, carrier screening, and guiding management.
2. How do I prepare for this test and which sample type is needed?
Quick Answer: A blood sample, extracted DNA, or a dried blood spot on an FTA card is accepted after genetic counseling.
A genetic counseling session is mandatory to draw a pedigree chart of family members affected with THES2. We accept whole blood (3–5 mL in EDTA tube), extracted DNA, or a dried blood spot on an FTA card for infants or remote collection. Fasting is not required. Our VIP Mobile Phlebotomy team will guide you through the home collection process.
3. What is the turnaround time and how do I receive my results?
Quick Answer: Results are delivered in 3–4 weeks with telephonic post-test clinical guidance included.
After sample collection, you will receive a secure digital report within 3–4 weeks. Our DHA-licensed genetic counselors will call you to interpret the findings, explain implications for you and your family, and recommend next steps. Direct billing to insurance is verified via WhatsApp.
4. Is home collection available for this test?
Quick Answer: Yes, VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM.
Our ISO-certified home collection service ensures safe, temperature-controlled transport of your sample from your residence to our accredited laboratory. The phlebotomist arrives at your preferred time slot, collects the blood sample, and handles all chain-of-custody documentation. This service is included in the test price across Dubai and the Northern Emirates.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation: This laboratory operates under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) 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 testing is performed by DHA-licensed professionals in full compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Patient data is encrypted, access-controlled, and never shared without explicit consent.
Clinical & Logistical Metadata
| Test Name | SKIV2L Gene Trichohepatoenteric Syndrome Type 2 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (Express option available) |
| Sample Type / Matrix | Whole Blood (3–5 mL in EDTA tube), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina NovaSeq |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 21651-4 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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