Test Price
2,800 AED✅ Home Collection Available
KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing on Illumina platforms detects point mutations, small insertions/deletions, and copy number variants in the KRT14 gene. Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily across all Emirates from 8 AM to 11 PM. Clinical Guidance: Post-test telephonic counselling by a DHA-licensed Consultant Medical Geneticist. Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced NGS-based test sequences the entire KRT14 gene (coding region and exon-intron boundaries) to detect pathogenic variants causing Naegeli-Franceschetti-Jadassohn syndrome (NFJS), a rare autosomal dominant ectodermal dysplasia characterized by reticulate skin pigmentation, palmoplantar keratoderma, and dental anomalies. The test uses Illumina paired-end chemistry with >100x deep coverage, followed by Sanger confirmation of all clinically significant variants. Results are delivered within 3–4 weeks and include a dedicated dermatogeneticist interpretation with ACMG variant classification.
| Feature | Our KRT14 NGS Test | Closest Alternative (Multi-Gene Panel) |
|---|---|---|
| Precision | Single-gene deep coverage (>100x); CNV detection included | Panel may have lower coverage for KRT14; often misses exon-level CNVs |
| Method | Illumina NGS with Sanger confirmation | NGS panel without confirmatory sequencing |
| Turnaround | 3–4 Weeks | 4–6 Weeks (often batched) |
| Interpretation | Dedicated dermatogeneticist report | General genetics report |
| Price (AED) | 2,800 | 3,200 – 4,500 |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I emphasise that a positive KRT14 mutation confirms the diagnosis of Naegeli-Franceschetti-Jadassohn syndrome and distinguishes it from other reticulate pigmentary disorders. Results must be interpreted within the full clinical context—including dermatological examination, family pedigree, and sweat function assessment. Post-test genetic counselling is essential to discuss penetrance, variable expressivity, and reproductive recurrence risks. This test should never be used in isolation for treatment decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Considerations
Genetic counselling is strongly recommended before and after testing to ensure informed consent and appropriate interpretation of results. A negative result does not exclude all genetic causes of ectodermal dysplasia—clinical correlation with a specialist remains necessary.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or systemic infection requiring antibiotics – postpone collection until clinically recovered.
- Severe anaemia (Hb < 8 g/dL) or current anticoagulation therapy without physician clearance.
- Emergency Red Flags: Sudden blistering, widespread skin sloughing, or signs of heat intolerance (hyperthermia) require immediate emergency care—do not wait for a scheduled blood draw.
Patient FAQ & Clinical Guidance
1. How accurate is the KRT14 gene test for Naegeli-Franceschetti-Jadassohn syndrome diagnosis?
The NGS test achieves analytical sensitivity exceeding 99.9% for single nucleotide variants and small indels within the KRT14 coding region. Clinical sensitivity depends on the phenotypic criteria used; when correlated with dermatological examination and family history, the diagnostic yield is high for classical NFJS presentations.
2. Is fasting required before sample collection?
No fasting is required for this DNA-based test. Whole blood can be collected at any time of day. Please provide a complete clinical summary and family pedigree at the time of collection to facilitate accurate variant interpretation.
3. Will my insurance cover the cost of this genetic test in the UAE?
Many UAE health insurers cover single-gene tests for clinically confirmed ectodermal dysplasias. We offer direct billing verification via WhatsApp (+971 54 548 8731) prior to collection and provide DHA-compliant pre-authorisation documentation to support your claim.
4. How long does it take to receive results?
The standard turnaround time is 3–4 weeks from sample receipt at our Dubai Healthcare City laboratory. Urgent cases may be expedited upon request; please contact our coordination team for details.
UAE Regulatory & Data Privacy Adherence
Your data is protected. DNA Labs UAE operates under DHA Facility License No. 1143 and complies 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, access-controlled, and never shared with third parties without explicit patient consent. Clinical testing and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information remains confidential and is used solely for diagnostic purposes as outlined in the informed consent document.
Clinical & Logistical Metadata
| Test Name | KRT14 Gene Sequencing – Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube); alternative buccal swab accepted for paediatric cases |
| Methodology Used | Next-Generation Sequencing (Illumina platform) with Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | Q82.8 (Other specified congenital malformations of skin) |
| LOINC Code | 94761-6 (KRT14 gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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