Test Price
2,800 AED✅ Home Collection Available
JAG2 Gene Sequencing Test for Craniofacial & Neurodevelopmental Disorders | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Diagnostic Precision: Targeted next-generation sequencing (NGS) covering the entire JAG2 coding region, intron-exon boundaries, and untranslated regions (UTR) to detect pathogenic variants associated with Alagille syndrome type 2 and related craniofacial dysmorphism syndromes. Clinical sensitivity exceeds 99.9 percent for sequence-level alterations.
Direct-to-Consumer Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection executed by DHA-licensed nursing personnel. Entire pre-analytical chain maintains ISO 15189 compliance for specimen integrity.
Post-Test Clinical Support: Structured tele-genetic counseling session included with every report, connecting patients directly with Board-certified clinical geneticists for result interpretation and cascade screening guidance.
Test Overview & Methodology
The JAG2 gene sequencing assay utilizes high-coverage next-generation sequencing (NGS) to interrogate all clinically relevant regions of the JAG2 locus on chromosome 14q32. Pathogenic variants in JAG2 are associated with Alagille syndrome type 2 (ALGS2), a multisystem autosomal dominant disorder characterized by bile duct paucity, congenital cardiac defects, butterfly vertebrae, posterior embryotoxon, and characteristic facial features. This molecular test serves as a first-tier diagnostic tool for pediatric patients presenting with cholestatic jaundice, dysmorphic facies, and neurodevelopmental delay, enabling early, targeted intervention and informed family planning.
| Feature | DNA Labs UAE (DHA Licensed) | Standard Regional Panel |
|---|---|---|
| Precision & Coverage | 99.9% Sensitivity (coding + splice sites) | Limited to hotspot regions (85-95%) |
| Methodology | NGS + Orthogonal Sanger Confirmation | NGS-only or chromosomal microarray |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Sample Requirement | Whole blood or dried blood spot (FTA) | Whole blood (2 mL minimum) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist practicing in Dubai, I cannot overstate the importance of integrating JAG2 sequencing results with a comprehensive clinical dysmorphology assessment, cardiac echo, ophthalmologic exam, and hepatic function panel. A pathogenic variant in JAG2 confirms the diagnosis but does not predict phenotypic severity. Family segregation analysis and cascade screening for first-degree relatives are strongly recommended for accurate recurrence risk counseling.” — Dr. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Clinical Advisory
JAG2 genetic test results must not be used as the sole criterion for initiating, discontinuing, or modifying any therapeutic intervention, including ursodeoxycholic acid, fat-soluble vitamin supplementation, or cardiac medications. All clinical management decisions require independent validation by the treating specialist through correlation with biochemical, imaging, and histological parameters.
Laboratory Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with active hematologic malignancy require expedited sample processing and must contact the laboratory prior to collection to ensure appropriate handling protocols are engaged.
- Exclusion: Neonates under 48 hours of age heel-prick sampling is accepted only with a documented physician referral indicating medical necessity.
- Emergency Red Flag: Acute neurological deterioration such as sudden-onset seizures, loss of consciousness, or focal neurological deficits mandates immediate transfer to the nearest emergency department. Do not defer emergency care while awaiting genetic test results.
- Emergency Red Flag: Clinical suspicion of Alagille syndrome with signs of acute hepatic failure, coagulopathy, or refractory cardiac arrhythmia requires urgent hospital-based multidisciplinary evaluation. Genetic confirmation is confirmatory but not a prerequisite for acute medical management.
Patient FAQ & Clinical Guidance
1. How is the JAG2 gene test performed, and what sample do I need to provide?
Summary: The test requires a single peripheral blood draw or a dried blood spot collection using a sterile lancet.
Our DHA-licensed mobile phlebotomist will collect the sample at your home or office within a scheduled time window. The specimen is transported in ISO-certified temperature-controlled containers to our central processing laboratory at Dubai Healthcare City. No fasting is required, and the procedure takes approximately 10 minutes.
2. What will the results tell me, and how long does the analysis take?
Summary: The report identifies pathogenic or likely pathogenic variants in the JAG2 gene and provides a clinical correlation. Standard turnaround time is 3 to 4 weeks from sample receipt.
The comprehensive report includes variant classification according to ACMG/AMP guidelines, zygosity status, and a section detailing clinical recommendations. A mandatory post-test teleconsultation with a Board-certified genetic counselor is arranged within five business days of report issuance to discuss implications for family members and preventive care strategies.
3. Is the JAG2 genetic test covered by UAE health insurance?
Summary: Coverage varies by insurer and policy type. Our billing team pre-verifies eligibility and provides a transparent cost estimate.
Many premium UAE health insurance policies cover molecular genetic testing when ordered by a specialist and deemed medically necessary. Our team submits all required documentation to your payer. If full coverage is not available, the out-of-pocket cost is a fixed 2,800 AED, inclusive of the collection kit, sequencing, analysis, and the post-test counseling session. For minors, parental consent and pre-test genetic counseling are mandatory, fully compliant with Federal Decree-Law No. 4 of 2016 on Medical Liability.
4. Can home phlebotomy be arranged for my newborn or infant?
Summary: Yes, VIP mobile phlebotomy is available daily from 8 AM to 11 PM, including for pediatric patients.
Our pediatric-trained phlebotomists can collect heel-prick samples from neonates or venipuncture samples from infants and children in the comfort of your home. A physician referral is required for patients under 12 months of age. The temperature-controlled cold chain is maintained continuously from the point of collection to arrival at our Dubai Healthcare City laboratory, ensuring optimal nucleic acid preservation for sequencing.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All genetic data processing, storage, and transmission comply fully 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, de-identified, and stored on servers within the UAE.
Clinical Safety & Consent: Patient consent procedures, sample handling protocols, and clinical liability frameworks are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates exclusively under DHA Facility License Number 1143, ensuring all testing and reporting procedures meet Dubai Health Authority standards for diagnostic excellence and patient safety.
Clinical & Logistical Metadata
| Test Name | JAG2 Gene Sequencing for Craniofacial & Neurodevelopmental Disorders |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Venipuncture) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) + Sanger Confirmation |
| ICD-10-CM Code | Q44.7 (Alagille Syndrome), Q87.8, F84.9 |
| LOINC Code | 51966-0 (JAG2 gene mutation testing) |
| DHA Facility License & Address | DHA License: 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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