Test Price
2,800 AEDโ Home Collection Available
JAK3 Gene Sequencing for SCID (T-Negative, B-Positive) โ NGS Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Advanced Molecular Confirmation for Severe Combined Immunodeficiency. This next-generation sequencing (NGS) assay targets the JAK3 gene to identify pathogenic variants causing autosomal recessive SCID with a T-negative, B-positive immunological phenotype. The test delivers 99.9% diagnostic sensitivity through ISO-accredited bioinformatic pipelines and dual-clinician variant interpretation per ACMG standards.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM โ 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance included for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The JAK3 Gene Sequencing Test employs next-generation sequencing (NGS) to interrogate all coding exons and conserved splice regions of the JAK3 gene, detecting single-nucleotide variants, small insertions and deletions, and copy-number alterations. This assay is the definitive molecular standard for confirming SCID when lymphocyte subset analysis reveals absent T cells with normal or elevated B cell counts, enabling early hematopoietic stem cell transplantation evaluation, gene therapy candidacy, and carrier screening for at-risk relatives.
| Feature | Our Test (UAE NGS Panel) | Closest Alternative (Sanger / Single-Gene) |
|---|---|---|
| Precision | Full gene sequencing + CNV detection via NGS | Targeted mutation analysis only; may miss novel variants |
| Methodology | Illumina NGS with 100x depth; bioinformatic alignment to GRCh38 | Sanger sequencing; lower throughput |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
Physician Insight & Safety Protocols
โA confirmed pathogenic variant in JAK3 provides a definitive molecular diagnosis for SCID, yet clinical correlation with lymphocyte phenotyping and immunoglobulin levels is imperative. Early molecular identification facilitates timely referral for hematopoietic stem cell transplantation or gene therapy, and enables accurate carrier testing for family planning. Do not interpret this result in isolation; always consult your immunologist or clinical geneticist.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Clinical Advisory
Important Precautions
Do not alter or discontinue any prescribed immunosuppressants, prophylactic antibiotics, or immunoglobulin replacement therapy without direct consultation with your treating physician. Genetic testing results complementโbut do not replaceโongoing clinical management and routine immunological monitoring.
Exclusion Criteria & Safety Guidelines
- Acute febrile illness or blood transfusion within the past 2 weeks โ postpone collection to prevent sample degradation.
- Known hypersensitivity to chlorhexidine or alcohol-based antiseptics โ inform the phlebotomist prior to venipuncture.
- If submitting pre-extracted DNA, require quantity >1 ฮผg and A260/A280 purity ratio between 1.8โ2.0; otherwise, whole blood is preferred.
- Emergency Signs: Severe respiratory distress, cyanosis, or uncontrolled bleeding after sample collection โ seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What does the JAK3 NGS test detect and why is it essential for SCID diagnosis?
This test sequences all coding exons and flanking splice regions of the JAK3 gene to identify single nucleotide variants, small insertions and deletions, and copy-number changes. It is the gold-standard molecular method for confirming SCID when flow cytometry reveals absent T cells with normal or elevated B cells (T-B+NK- phenotype), providing definitive diagnosis, transplant eligibility assessment, and carrier screening for relatives.
2. How should I prepare for the blood collection, and what sample type is required?
No fasting is necessary. A standard EDTA whole blood sample (3โ5 mL) is preferred for optimal DNA yield and quality. The VIP Mobile Phlebotomy team will collect the sample at your home between 8 AM and 11 PM using temperature-controlled cold-chain transport. Pre-test genetic counseling is mandatory to document family history and obtain informed consent per UAE regulatory standards.
3. When will I receive my results and how are they interpreted?
Results are issued within 3 to 4 weeks from sample receipt. The report includes variant classification according to ACMG/AMP guidelines, clinical correlation with immunological phenotype, and actionable recommendations for hematopoietic stem cell transplantation or gene therapy evaluation. All reports are double-validated by a molecular geneticist and a clinical immunologist. A telephonic consultation is provided to discuss implications for treatment and family planning.
UAE Regulatory & Data Privacy Adherence
This diagnostic service is performed in full compliance with UAE health data protection regulations: 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 requirements adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic sequence data is stored on secure, in-country servers with restricted access and encrypted transmission. ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | JAK3 Gene Sequencing for SCID (T-Negative, B-Positive) โ NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina Platform, 100x Depth, GRCh38 Alignment |
| ICD-10-CM Code | D81.0, D81.9 |
| LOINC Code | 94054-7 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians