Test Price
2,800 AEDโ Home Collection Available
PSMB8 Gene Genetic Test โ Autoinflammation, Lipodystrophy, and Dermatosis Syndrome | DNA Labs UAE
Executive Summary & Core Metrics
Comprehensive Genetic Confirmation for ALDD
Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 accredited NGS processing (Certificate INT/EGQ/2509DA/3139).
Biobanking & Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ available daily from 8 AM to 11 PM.
Post-Test Support: Telephonic result interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance Verification: Direct billing check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PSMB8 Gene NGS Test detects pathogenic variants in the PSMB8 gene associated with autoinflammation, lipodystrophy, and dermatosis syndrome (ALDD), also referred to as Nakajo-Nishimura syndrome. Next-Generation Sequencing (NGS) covers the entire coding region and includes copy number variant (CNV) detection, providing definitive molecular data to guide clinical management and family counseling.
| Feature | DNA Labs UAE โ PSMB8 NGS | Closest Alternative |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity (ISO-accredited NGS) | Sanger sequencing โ limited to known hotspots |
| Methodology | Full-gene NGS with CNV analysis | Targeted PCR or Sanger โ lower throughput |
| Turnaround Time | 3 โ 4 Weeks | 5 โ 8 Weeks |
| Home Collection | 8 AM โ 11 PM, cold-chain logistics | Not routinely available |
Physician Insight & Safety Protocols
Clinical Guidance from Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
โThis NGS panel provides definitive molecular confirmation for a complex autoinflammatory phenotype. Results must always be correlated with dermatological, metabolic, and immunological assessments. A negative finding does not definitively exclude ALDD if clinical suspicion remains high. Refer all results to your treating physician before any therapeutic changes.โ
Advisory Precautions
โ Important Clinical Advisory
Do not stop, adjust, or start any prescribed medication based solely on genetic test results. All therapeutic decisions require consultation with your managing physician.
Exclusion Criteria & Emergency Red Flags
Contraindications for Sample Collection
- Active systemic infection or febrile illness on the day of collection.
- Open skin lesions, eczema, or cellulitis at the venipuncture site.
- Blood transfusion within the past 2 weeks โ may compromise DNA purity; please reschedule.
- If severe pain, vasovagal syncope, or signs of anaphylaxis occur during or after the draw, call emergency services (998) immediately and notify our support line.
Patient FAQ & Clinical Guidance
1. What conditions does the PSMB8 gene test diagnose?
This NGS test detects pathogenic variants in PSMB8 responsible for autoinflammation, lipodystrophy, and dermatosis syndrome (ALDD), also known as Nakajo-Nishimura syndrome. It aids in differentiating ALDD from other autoinflammatory disorders with overlapping features such as CANDLE syndrome.
2. Can this test be performed on children?
Yes, with written parental or legal guardian consent and a mandatory pre-test genetic counseling session to document family history, in accordance with UAE pediatric testing regulations under Federal Decree-Law No. 4 of 2016 on Medical Liability.
3. How is my genetic data protected under UAE law?
Your genomic data is protected under 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 sequencing data is stored on encrypted servers within the UAE; only anonymized reports are shared for clinical interpretation.
4. How long does it take to receive results?
The standard turnaround time is 3 to 4 weeks from sample receipt. This allows for full-gene NGS, bioinformatic analysis, and clinical variant interpretation.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ genomic data privacy and processing
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ health information governance
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ patient consent and clinical safety
- ISO 9001:2015 quality management system โ Certificate INT/EGQ/2509DA/3139
- DHA Facility License: 1143 โ fully compliant with Dubai Healthcare City Authority regulations
Clinical & Logistical Metadata
| Test Name | PSMB8 Gene Genetic Test โ Autoinflammation, Lipodystrophy, and Dermatosis Syndrome (ALDD) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM โ 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Analysis with Copy Number Variant Detection |
| ICD-10-CM Code | M04.8 |
| LOINC Code | 21675-8 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians