Test Price
2,800 AEDโ Home Collection Available
NLRP12 Gene Sequencing for Cold Autoinflammatory Syndrome Type 2 (CAPS2) in UAE
Executive Summary & Core Metrics
NLRP12 Gene Sequencing is a targeted next-generation sequencing (NGS) assay that analyzes the complete coding region of the NLRP12 gene to detect pathogenic variants responsible for Cold Autoinflammatory Syndrome Type 2 (CAPS2). This hereditary periodic fever syndrome presents with cold-induced urticaria, arthralgia, and systemic inflammation. The test delivers diagnostic-grade accuracy and is supported by ISO-accredited processing, telephonic post-test clinical guidance, and VIP mobile phlebotomy for home collection across the UAE.
- Price: 2,800 AED
- Turnaround Time: 3โ4 Weeks
- Methodology: Next Generation Sequencing (NGS) โ Whole Gene Coding Region Analysis
- Sample Type: Whole Blood (EDTA) or Buccal Swab
- Diagnostic Sensitivity: >99.9% base-level accuracy with deep coverage
- Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM)
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This next-generation sequencing (NGS) test exhaustively interrogates the entire coding region and splice-site junctions of the NLRP12 gene to identify single-nucleotide variants (SNVs), small insertions and deletions (indels), copy-number variants (CNVs), and deep intronic variants that may disrupt protein function. Pathogenic alterations in NLRP12 trigger dysregulated interleukin-1ฮฒ signalling, culminating in cold-induced urticarial rash, recurrent fevers, arthralgia, and systemic inflammation characteristic of CAPS2. The assay is performed on an Illumina platform with a minimum 50x depth of coverage across all target regions, ensuring robust detection of mosaic and heterozygous variants. Clinical correlation with family history, inflammatory biomarkers, and specialist rheumatology or dermatology evaluation is essential for definitive diagnosis and management.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% base-level accuracy with deep coverage | High accuracy but limited to targeted regions |
| Methodology | Next Generation Sequencing (NGS) | Sanger Sequencing |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Variant Detection | Detects SNVs, indels, CNVs, and deep intronic variants | Misses large deletions, duplications, and deep intronic variants |
Physician Insight & Safety Protocols
Insight from Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403): "NLRP12 sequencing is a powerful tool for confirming CAPS2 in patients with cold-triggered urticaria and recurrent febrile episodes. However, a pathogenic variant alone does not equate to active disease; clinical penetrance varies, and some carriers remain asymptomatic. Always correlate genetic findings with a thorough physical examination, family pedigree analysis, and serial inflammatory markers such as C-reactive protein and serum amyloid A. A multidisciplinary approach involving a clinical geneticist, rheumatologist, and immunologist is strongly advised before initiating any targeted therapy."
Pre-Test Genetic Counselling Advisory
A mandatory pre-test genetic counselling session is required for all patients undergoing NLRP12 gene sequencing. During this session, a certified genetic counsellor will document a three-generation pedigree, discuss the inheritance pattern (autosomal dominant with reduced penetrance), and explain the potential psychological and familial implications of both positive and uncertain results. Informed consent must be obtained in writing before sample collection. Patients are advised not to discontinue any prescribed anti-inflammatory or immunomodulatory medication prior to consultation without explicit instruction from their treating physician.
Exclusion Criteria & Emergency Red Flags
- Recent allogeneic hematopoietic stem cell transplant (interferes with germline DNA analysis).
- Inability to provide informed consent or comply with phlebotomy requirements.
- Known somatic mosaicism may necessitate additional tissue testing.
๐จ Red Flags: If you experience high fever, severe rash, joint swelling, or signs of systemic inflammation, seek urgent medical careโgenetic testing should not delay clinical intervention.
Patient FAQ & Clinical Guidance
1. What does the NLRP12 genetic test detect and how is it used?
This test detects pathogenic variants in the NLRP12 gene causing cold autoinflammatory syndrome type 2, guiding diagnosis and treatment. The assay sequences the entire NLRP12 gene using NGS, identifying point mutations, deletions, and duplications linked to CAPS2. A positive result can confirm a clinical diagnosis and inform management strategies, including targeted therapies.
2. How should I prepare for the NLRP12 genetic test and is genetic counselling required?
A genetic counselling session is mandatory to discuss family history, inheritance, and implications before sample collection. You need to provide a blood sample (EDTA tube) or buccal swab and undergo pre-test counselling where a certified genetic counsellor draws a pedigree chart of affected family members. No fasting is required, but standard hygiene protocols for phlebotomy apply. The session ensures you fully understand potential findings, including variants of uncertain significance, and their impact on family members.
3. How long does it take to get results and what happens after?
Results are delivered in 3 to 4 weeks, followed by a telephonic consultation for personalised interpretation. Once your NGS analysis is complete, our clinical genetics team will call you to explain the findings, discuss any variants of uncertain significance, and recommend follow-up steps with your specialist. The report includes a clear risk assessment, clinical correlation, and referral guidance for rheumatology or dermatology follow-up as indicated.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test and its associated data processing comply 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 safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All genetic data is processed in a secure, encrypted environment with access restricted to authorised clinical personnel only.
Clinical & Logistical Metadata
| Test Name | NLRP12 Gene Sequencing for Cold Autoinflammatory Syndrome Type 2 (CAPS2) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab; DNA Extraction |
| Methodology Used | Next Generation Sequencing (NGS) โ Whole Gene Coding Region & Splice-Site Analysis |
| ICD-10-CM Code | M04.2 |
| LOINC Code | 98238-5 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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