Test Price
2,800 AED✅ Home Collection Available
JAG1 Gene Alagille Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA-Compliant Molecular Diagnosis
Executive Summary & Core Metrics
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.
- ✔Accuracy Guarantee: 99.9% diagnostic sensitivity, ISO 9001:2015-certified wet-lab and bioinformatics pipeline.
- ✔Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- ✔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.
The assay employs a dual methodology of NGS with MLPA reflex for copy number variant detection, covering more than 99% of regions of interest at a minimum depth of 20×. All variants are classified according to ACMG/AMP guidelines and confirmed by orthogonal methods where required.
Comparative Diagnostic Performance
| Feature | Our Test – JAG1 NGS with MLPA Reflex | 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 Protocols
“Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics – DHA Registration ID: 9294403): 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 and in accordance with established international guidelines.”
Patient Safety & Informed Consent Advisory
⚠️ Genetic Testing Safety & Consent
Informed consent must be obtained prior to sample collection. Patients and guardians are counselled on the implications of genetic testing including carrier status, incidental findings, and the right to decline disclosure of secondary findings. All procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability governing clinical testing safety and patient consent. Do not discontinue prescribed medications such as ursodeoxycholic acid or fat-soluble vitamins without consulting the managing paediatric hepatologist.
Exclusion Criteria & Emergency 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.
Patient FAQ & Clinical Guidance
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 guidelines and include classification of variants as pathogenic, likely pathogenic, or of uncertain significance.
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 VIP Mobile Phlebotomy home collection service operates 8 AM to 11 PM, 7 days a week. All samples are transported in ISO-certified cold chain to our Dubai laboratory.
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-test telephonic counselling session to discuss findings and next steps.
4. Can this test be used for prenatal diagnosis?
Yes, when a familial pathogenic variant has been identified in a proband.
Prenatal testing for Alagille syndrome type 1 is available through chorionic villus sampling or amniocentesis, performed by an accredited obstetric unit. Results are processed on an expedited basis with direct communication to the managing foetal medicine specialist. Pre-test genetic counselling is mandatory before proceeding with prenatal testing.
UAE Regulatory & Data Privacy Adherence
🔒 Data Protection & Compliance Framework
All genetic data generated through this test is processed in full compliance 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. Patient genomic information is encrypted at rest and in transit, access-controlled on a need-to-know basis, and retained only for the period required by UAE health authority guidelines. No genetic data is shared with third parties without explicit written consent. DNA Labs UAE maintains a comprehensive data protection impact assessment and breach notification protocol aligned with PDPL requirements.
Clinical & Logistical Metadata
| Test Name | JAG1 Gene Alagille Syndrome Type 1 Genetic Test – Full Gene NGS with MLPA Reflex |
| Price (AED) | 2,800 AED (inclusive of pre- and post-test genetic counselling) |
| Turnaround Time | 3–4 weeks from sample receipt at laboratory |
| Sample Type / Matrix | Whole blood (EDTA tube), FTA card blood spot, or previously extracted genomic DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA reflex for copy number variant detection |
| ICD-10-CM Code | Q44.7 (Alagille syndrome) |
| LOINC Code | 81301-2 (JAG1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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.
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