Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 weeks from sample receipt
NKX3-2 Gene Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection (daily 8 AM โ 11 PM).
- Clinical Guidance: Telephonic post-test counselling by a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Specimen: Whole blood, extracted DNA, or FTA card drop โ no fasting required.
- Turnaround: 3โ4 weeks from sample receipt.
- Method: Ultra-deep NGS with CNV detection, validated per ISO 9001:2015 (INT/EGQ/2509DA/3139).
- DHA Licensed: Facility License 1143, DNA Labs UAE, Dubai Healthcare City.
Test Overview & Methodology
This advanced NGS test detects pathogenic variants in the NKX3-2 gene, providing definitive molecular diagnosis for Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) โ a rare skeletal disorder. The entire coding region and splice sites are sequenced with ultra-deep coverage, enabling detection of point mutations, small insertions/deletions, and copy number variations (CNVs).
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | NGS with 99.9% analytical sensitivity & specificity | Sanger sequencing (limited to known single variants) |
| Method | Ultra-deep NGS, CNV detection, validated per ISO 9001:2015 | PCR-based panels or exome sequencing without focused gene coverage |
| Speed | 3โ4 weeks from sample receipt | 6โ8 weeks typical |
Physician Insight & Safety Protocols
โAs a consultant medical geneticist, I emphasize that this test detects pathogenic variants, but a positive result must be correlated with radiological and clinical findings. A negative result does not exclude the diagnosis if clinical suspicion remains high. Always combine genetic data with expert phenotyping and family history.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA 9294403
Medication & Safety Advisory
Important Safety Information
Do not discontinue any prescribed medication without consulting your doctor. This test is diagnostic and does not replace ongoing medical management.
Exclusion Criteria & Emergency Red Flags
- Individuals with known anaphylaxis to blood draw supplies โ refer to facility for alternative collection methods.
- Active severe infection or hemodynamic instability โ stabilise before sample collection.
- Seek emergency care if you experience: sudden severe bone pain, joint dislocation, or respiratory distress.
- Children under 18 must be accompanied by a legal guardian per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of NKX3-2 gene testing?
Snippet: NKX3-2 NGS testing confirms the molecular diagnosis of Spondylo-megaepiphyseal-metaphyseal dysplasia, enabling precise management, genetic counseling, and family screening.
The test sequences the entire coding region of the NKX3-2 gene using next-generation sequencing, detecting point mutations, small insertions/deletions, and copy number variations with high accuracy.
2. How should I prepare for the sample collection?
Snippet: No fasting is required; simply provide a blood sample (whole blood, extracted DNA, or a drop on FTA card) after a genetic counselling session to document family history.
Our home collection team arranges a convenient time; a clinical history form and pedigree chart will be completed to enhance interpretation.
3. How accurate is this test compared to other methods?
Snippet: It delivers 99.9% analytical sensitivity and specificity, outperforming single-gene Sanger sequencing by capturing the full NKX3-2 coding region with deep coverage.
The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139), ensuring robust quality management and reproducible results.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
- All genetic data is handled in 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.
- Clinical testing and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- The laboratory is licensed by the Dubai Health Authority (DHA) under facility license number 1143.
- Results are released only to the ordering physician or directly to the patient upon verified consent.
Clinical & Logistical Metadata
| Test Name | NKX3-2 Gene Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card drop |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | Q77.8 (Other osteochondrodysplasia) |
| LOINC Code | 93268-5 (NKX3-2 gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | License 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No fasting required"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians