Test Price
2,800 AED✅ Home Collection Available
JAK3 Gene Sequencing for SCID (T-Negative, B-Positive) – NGS Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين JAK3 للكشف عن نقص المناعة المشترك الشديد (SCID) T-B+ بتقنية التسلسل الجيني NGS في الإمارات | 2800 درهم | وفق إرشادات هيئة الصحة بدبي 2026
ملخص تنفيذي: فحص جيني متقدم بتقنية التسلسل من الجيل التالي (NGS) لتشخيص طفرة جين JAK3 المسببة لنقص المناعة المشترك الشديد (SCID) من النوع الجسدي المتنحي (سلبي T، إيجابي B) بدقة تشخيصية 99.9% عبر مختبر حاصل على شهادة الآيزو. خدمة سحب دم منزلي وفق سلسلة تبريد معتمدة من المستشفى، وإرشاد سريري هاتفي بعد النتيجة، وتحقق مباشر من التأمين عبر واتساب 5488731 54 971+.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection with Certified Cold-Chain Transport; VIP Mobile Phlebotomy service (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance included for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Overview
The JAK3 Gene Sequencing Test uses next-generation sequencing (NGS) to identify pathogenic variants in the JAK3 gene, confirming a diagnosis of severe combined immunodeficiency (SCID) with T-cell negative, B-cell positive phenotype. This autosomal recessive disorder compromises immune function from infancy; early molecular confirmation is critical for management, transplant planning, and family genetic counseling.
| 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 | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocol
“A positive JAK3 mutation result provides a definitive molecular diagnosis for SCID, but clinical correlation remains essential—always integrate findings with lymphocyte subset analysis and immunoglobulin levels. For families, early identification allows timely hematopoietic stem cell transplantation or gene therapy consideration, while carrier testing empowers reproductive planning. Please do not interpret this test in isolation; consult your immunologist or geneticist.”
— Dr. Prabhakar Reddy, DHA License: 61713011
Medication Warning:
Do not discontinue any prescribed medication, including immunosuppressants or prophylactic antibiotics, without consulting your physician. Genetic testing does not replace ongoing clinical management.
Safety & Exclusion Criteria:
- Acute febrile illness or recent blood transfusion within 2 weeks – postpone collection to avoid sample degradation.
- Known allergy to antiseptic (chlorhexidine/alcohol) used during venipuncture – inform phlebotomist.
- If submitting extracted DNA, ensure quantity >1 μg and purity A260/A280 1.8–2.0; otherwise, whole blood is preferred.
- ER Red Flags: If the patient experiences severe respiratory distress, cyanosis, or uncontrolled bleeding after sample collection, seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What exactly does the JAK3 NGS test detect, and why is it needed for SCID diagnosis?
يكتشف فحص جين JAK3 بتقنية التسلسل الجيني المتقدم الطفرات الممرضة المسببة لنقص المناعة المشترك الشديد (SCID) من النوع T سلبي B إيجابي بدقة عالية. This test sequences all coding exons of the JAK3 gene and adjacent splice sites to identify single nucleotide variants, small indels, and copy number changes. It is the gold standard for confirming SCID when lymphocyte phenotyping shows absent T cells but normal or elevated B cells, enabling precise diagnosis, transplant eligibility, and family screening.
2. How should I prepare for the blood draw, and can I use a dried blood spot card?
يُفضّل سحب عينة دم وريدي قياسية للحصول على دقة مثلى، ولكن يمكن استخدام بطاقة FTA لقطرة دم واحدة بعد استشارة المختبر. No fasting is required; however, a pre- genetic counseling session is mandatory to document family history and obtain informed consent under UAE regulations. Our home collection team provides the appropriate vacutainer or FTA card, ensuring cold-chain compliance from collection to lab.
3. When will I receive results, and how are they reviewed?
تصدر النتائج خلال 3 إلى 4 أسابيع، وستتلقى مكالمة هاتفية لتفسيرها سريرياً من قبل فريقنا الطبي المعتمد. The report includes detailed variant classification (ACMG guidelines), clinical correlation, and recommendations for follow-up immunological testing. All reports are double-validated by a molecular geneticist and a clinical immunologist before release. You may schedule an online consultation to discuss implications for treatment or family planning.
This service is performed under UAE Healthcare Laws: Federal Decree-Law No. 41 of 2024 (Art. 87, Medical Liability), CDS Law 2026 (Minors’ Consent for Genetic Testing), and UAE PDPL (Data Privacy). All genetic data is stored securely in-country.
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Facility License: 9834453. Contact +971 54 548 8731.
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