Test Price
2,800 AED✅ Home Collection Available
SPINK5 Gene Netherton Syndrome Genetic Test
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 available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by DHA-licensed genetic counselors.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The SPINK5 Gene Netherton Syndrome Genetic Test analyzes the entire coding region of the SPINK5 gene using next-generation sequencing to confirm or rule out pathogenic variants responsible for Netherton syndrome, a severe autosomal recessive disorder characterized by congenital ichthyosis, hair shaft abnormalities, and atopic manifestations. Full gene sequencing combined with copy number variation analysis ensures maximum diagnostic yield.
| Feature | Our Test (ISO 9001:2015) | Closest Alternative |
|---|---|---|
| Precision | 99.9% Sensitivity, NGS with 100x mean depth | 85–90% (single-exon assays, Sanger-only) |
| Methodology | Full Gene NGS + CNV Analysis | Limited panel or targeted mutation analysis |
| Turnaround Time | 3–4 Weeks | 6–10 Weeks |
| Pre-Test Counseling | Included genetic counselling & pedigree chart | Often not provided |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics at DNA Labs UAE, I confirm that comprehensive SPINK5 gene sequencing with CNV analysis is the definitive molecular approach for confirming Netherton syndrome. The high sensitivity of NGS-based testing provides robust diagnostic clarity, yet results must always be integrated with clinical phenotype, family pedigree, and dermatological assessment. Pre-test genetic counselling is mandatory to address recurrence risks and reproductive implications. A negative result does not fully exclude the diagnosis if clinical suspicion remains high, and any positive finding should prompt specialist referral for multidisciplinary management.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory – Do Not Alter Prescribed Therapy
This genetic test is a diagnostic tool only and does not replace ongoing medical management. Do not discontinue, adjust, or initiate any prescribed medication or treatment without direct consultation with your managing physician. If the patient experiences severe skin blistering, signs of systemic infection, or acute respiratory distress, seek immediate emergency medical attention — this test is not intended for emergency diagnosis or acute care decision-making.
Patient Exclusion Criteria & Consent Requirements
- Minors: Individuals under 18 years old require a legal guardian’s signed informed consent and mandatory pre-test genetic counselling as stipulated under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Inability to Consent: Patients who are unable to provide informed consent due to cognitive impairment or legal incapacity must have a legally authorized representative provide consent in accordance with UAE medical liability regulations.
- Contraindications: No specific medical contraindications exist for blood draw; however, standard phlebotomy precautions apply for patients with bleeding disorders or those on anticoagulant therapy.
Patient FAQ & Clinical Guidance
1. What is the accuracy of the SPINK5 gene test for confirming Netherton syndrome?
Our NGS-based test achieves 99.9% diagnostic sensitivity by sequencing the entire SPINK5 coding region, all exon-intron boundaries, and performing concurrent CNV analysis, making it the most reliable molecular confirmation method available in the UAE for this rare autosomal recessive disorder.
2. What sample types are accepted and how is collection performed?
We accept whole blood (3–5 mL in EDTA tube), extracted high-quality DNA, or a single dried blood spot on an FTA card. Collection is performed by our DHA-licensed phlebotomists via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM. Alternatively, samples can be provided at our Dubai Healthcare City facility.
3. Is genetic counselling required before taking this test?
Yes, pre-test genetic counselling is mandatory and is included in the package. A DHA-licensed genetic counselor will conduct a detailed pedigree analysis, explain the scope and limitations of the test, discuss possible outcomes including variants of uncertain significance, and address implications for family members and reproductive planning. Post-test counselling is also provided to interpret results in the appropriate clinical context.
4. How long does it take to receive results and how are they delivered?
The standard turnaround time is 3 to 4 weeks from sample receipt at the laboratory. Results are delivered electronically via secure patient portal with a detailed clinical report signed by the Consultant Medical Genetics. A telephonic consultation is scheduled to explain findings, discuss recurrence risks, and provide specialist referral recommendations.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed 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 genetic data is encrypted at rest and in transit, access-restricted to authorized clinical personnel only, and never shared with third parties without explicit written patient consent. Clinical safety protocols, informed consent procedures, and patient rights are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE maintains ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | SPINK5 Gene Netherton Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA, 3–5 mL), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage + CNV Analysis |
| ICD-10-CM Code | Q80.4 |
| LOINC Code | 95135-6 |
| DHA Facility License & Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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