Test Price
2,800 AED✅ Home Collection Available
JAG1 Gene Alagille Syndrome Type 1 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين JAG1 لمتلازمة ألاجيل من النوع الأول في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
Clinical-grade full gene sequencing of JAG1 — the definitive NGS test for Alagille syndrome (ALGS) diagnosis, familial screening, and neonatal evaluation. We deliver 99.9% analytical sensitivity for pathogenic SNVs, indels, and copy number variants via ISO-certified processing, paired with mandatory pre- and post-test genetic counselling.
موجز تنفيذي
يقدم مركزنا الطبي المعتمد من هيئة الصحة بدبي اختبار التسلسل الجيني الكامل لجين JAG1 لكشف متلازمة ألاجيل. نضمن دقة تصل إلى 99.9% مع استشارة وراثية هاتفية بعد الفحص وسحب عينات منزلي عالي الجودة.
- ✔Accuracy Guarantee: 99.9% diagnostic sensitivity, ISO 9001:2015-certified wet-lab and bioinformatics pipeline.
- ✔Premium Logistics: Paid hospital-grade home collection with ISO-certified cold-chain transport & DHA-licensed VIP phlebotomy.
- ✔Clinical Guidance: Mandatory telephonic post-test clinical interpretation by a certified genetic counsellor.
- ✔Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Clinical Utility
This next-generation sequencing (NGS) assay analyzes the entire coding region and exon–intron boundaries of the JAG1 gene, responsible for Alagille syndrome type 1 – a multisystem disorder with hepatic (bile duct paucity), cardiac, skeletal, and ocular manifestations. It is the most comprehensive genetic test for confirming the clinical diagnosis in a proband, screening at-risk relatives, and guiding neonatal management in the UAE.
هذا الفحص الجيني الشامل بتقنية NGS يحلل الجين JAG1 المسؤول عن متلازمة ألاجيل، ويُستخدم لتأكيد التشخيص وفحص أفراد العائلة والإرشاد الوراثي.
| Feature | Our Test – amorisana™ JAG1 NGS | Closest Alternative – Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | NGS with MLPA reflex for CNV detection, >99% regions of interest covered at ≥20× | Sanger sequencing; misses large deletions/duplications |
| Diagnostic Yield | ~94% in clinically definite ALGS; detects SNVs, indels, and CNVs | ~70–80%; limited to point mutations and small indels within coding exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Price | 2800 AED (inclusive of pre- & post-test counselling) | Often higher when add-on deletion/duplication analysis is required |
Physician Insight & Safety Protocol
“Note from Dr. PRABHAKAR REDDY (DHA License No. 61713011): A JAG1 molecular result is a powerful tool but never a stand-alone diagnosis. Clinical correlation with liver biopsy, cardiac echo, and skeletal survey remains essential. A negative NGS report does not rule out Alagille syndrome if other genes (e.g., NOTCH2) or deep intronic variants are involved. Always interpret findings within the full clinical context.”
⚠️ Medication Warning
Do not discontinue prescribed medication (e.g., ursodeoxycholic acid, fat-soluble vitamins) without consulting your child’s paediatric hepatologist. Genetic test results should inform, not replace, ongoing specialist care.
📋 Exclusion Criteria & ER Red Flags
- Exclusion: Severe haemophilia or bleeding diathesis – consult your physician for alternative buccal swab collection.
- Exclusion: Recent whole blood transfusion (<2 weeks) may affect DNA quality; an extracted DNA sample is preferred.
- Emergency Red Flag: If the patient develops acute worsening jaundice, repeated vomiting, lethargy, or bleeding – seek immediate emergency medical care. This test is not for acute crisis management.
Frequently Asked Questions
1. What is the JAG1 gene test used for?
The JAG1 NGS test detects pathogenic variants causing Alagille syndrome, a disorder of liver, heart, and skeleton.
It is employed to confirm a clinical diagnosis in a child with suggestive features, to screen asymptomatic family members, and for prenatal or preimplantation genetic diagnosis when a familial mutation is known. Results are reported according to ACMG/AMP 2026 guidelines and include classification of variants as pathogenic, likely pathogenic, or of uncertain significance.
يكشف اختبار جين JAG1 عن الطفرات الممرضة المسببة لمتلازمة ألاجيل، وهو اضطراب يؤثر على الكبد والقلب والهيكل العظمي.
2. How is the sample collected?
A single blood draw or FTA card blood spot is collected at home by a DHA-licensed phlebotomist.
We provide three collection options: whole blood in EDTA tube, DNA FTA card (ideal for infants/neonates with one drop blood), or previously extracted DNA. The home visit service operates 8 AM–11 PM, 7 days a week. All samples are transported in ISO-certified cold chain to our Dubai laboratory.
يتم سحب عينة دم واحدة أو نقطة دم على بطاقة FTA في المنزل بواسطة فني معتمد من هيئة الصحة بدبي.
3. How long for results and what do they mean?
Results are ready in 3–4 weeks and interpreted by a clinical geneticist during a tele-consultation.
The final report identifies the specific JAG1 variant (if any) and its clinical significance. A positive result confirms the molecular diagnosis and allows tailored surveillance and family screening. A negative result in a proband with high clinical suspicion may warrant further multi-gene panel or whole-exome sequencing. All patients receive a post- telephonic counselling session to discuss findings and next steps.
تظهر النتائج خلال 3–4 أسابيع ويتم تفسيرها من قبل استشاري الوراثة السريرية أثناء استشارة هاتفية.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians