Test Price
2,800 AED✅ Home Collection Available
INPP5E Gene Joubert Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015 Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Mandatory pre-test pedigree session and telephonic post-test genetic counselling by a DHA-licensed genetics team.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The INPP5E Genetic Test screens the entire coding sequence of the INPP5E gene to identify pathogenic mutations linked to Joubert syndrome type 1, a rare autosomal recessive ciliopathy. This test is essential for confirming a clinical diagnosis, carrier testing, and guiding personalized neurological management. A Board-certified neurologist or clinical geneticist should interpret the report alongside brain imaging findings.
| Feature | DNA Labs UAE Test | Closest Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus with 150× mean coverage | Sanger sequencing (single exon analysis) |
| Coverage | Full gene (27 exons) incl. deep intronic ±10 bp | Targeted hotspot regions only |
| Turnaround Time | 3–4 weeks | 6–8 weeks (standard) |
| Variant Classification | ClinVar + gnomAD v4.1 + ACMG guidelines | Basic database annotation |
| Sample Types | Whole blood, extracted DNA, or one-drop blood on FTA card | Whole blood only |
| Genetic Counselling | Mandatory pre‑test pedigree session + post‑test tele‑counselling included | Separate referral needed |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I confirm that a biallelic pathogenic variant in INPP5E establishes the molecular diagnosis of Joubert Syndrome Type 1, which must be correlated with neuroradiological findings and clinical phenotype. A negative result does not exclude the condition and may warrant reflex to whole exome sequencing or a dedicated ciliopathy panel. Families must be counselled regarding the 25% recurrence risk. It is imperative that patients continue all prescribed supportive therapies for respiratory and neurological manifestations unless otherwise directed by their treating physician."
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Advisory: Medication Continuity
🚨 Do not discontinue or alter prescribed medications, including anti-epileptics, respiratory support, or nutritional therapy, without explicit instruction from the managing neurologist or geneticist.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent; active chemotherapy or radiotherapy within the final 2 weeks (may affect DNA integrity in blood samples); known total leukocyte count <1.0 ×10⁹/L.
- Emergency Red Flags: Acute neurological deterioration (prolonged seizure, loss of consciousness, severe respiratory distress) during the waiting period requires immediate emergency care. Do not wait for genetic results.
- This test is indicated only for individuals with a clinical suspicion of Joubert Syndrome or a confirmed family history, evaluated by a neurologist or clinical geneticist.
Patient FAQ & Clinical Guidance
1. What is the INPP5E gene test for Joubert syndrome type 1?
This NGS blood test detects pathogenic variants in the INPP5E gene causing Joubert syndrome type 1, a rare ciliopathy with neurological involvement. It analyses the complete coding sequence to identify single-nucleotide changes and small insertions/deletions. A Board-certified neurologist or clinical geneticist should interpret the report alongside brain imaging.
2. How should I prepare for the INPP5E genetic test?
Attend a mandatory pre-test genetic counselling session to draw a detailed family pedigree and discuss possible outcomes. No fasting or medication adjustment is required unless specifically advised by your doctor. The sample can be collected at home by our DHA-approved mobile phlebotomist.
3. What does a positive result mean for my child or family?
A positive result confirms a diagnosis of Joubert syndrome type 1 and enables precise recurrence risk counselling for future pregnancies. It does not predict symptom severity but allows early intervention by a multidisciplinary team. Genetic counselling for parents and siblings is critical after any positive finding.
4. What is the turnaround time for this genetic test?
The standard turnaround time is 3–4 weeks from the date of sample receipt at our Dubai Healthcare City laboratory. This allows for comprehensive NGS sequencing, bioinformatics analysis, and clinical variant interpretation by our genetics team.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Privacy Framework
DNA Labs UAE strictly adheres to the UAE's highest standards for clinical data protection and laboratory practice.
- Data Protection: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Data Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Consent: All clinical testing and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: Our processes are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring international best practices in quality management.
Clinical & Logistical Metadata
| Test Name | INPP5E Gene Sequencing for Joubert Syndrome Type 1 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus |
| ICD-10-CM Code | Q04.3 (Joubert Syndrome) |
| LOINC Code | 82939-0 (INPP5E gene sequencing) |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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