Test Price
2,800 AED✅ Home Collection Available
ITPR1 Gene Gillespie Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Diagnostic Precision: This next‑generation sequencing (NGS) assay for the ITPR1 gene delivers 99.9% analytical sensitivity with complete coding‑region coverage, providing definitive molecular confirmation of Gillespie syndrome. Turnaround Time: 3–4 weeks from sample receipt. Sample Collection: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM via DNA Labs UAE. Insurance Verification: Direct WhatsApp inquiry at +971 54 548 8731 for real‑time coverage confirmation. Clinical Oversight: All results are interpreted by Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID 9294403).
Test Overview & Methodology
The ITPR1 gene encodes the inositol 1,4,5‑trisphosphate receptor type 1, a key calcium‑channel protein essential for neuronal and ocular development. Pathogenic variants in ITPR1 cause Gillespie syndrome (MIM #206700), an ultra‑rare disorder characterised by bilateral partial aniridia, cerebellar ataxia, and variable intellectual disability. This NGS‑based test interrogates all coding exons and flanking intronic regions of ITPR1 to detect single‑nucleotide variants, small insertions/deletions, and splice‑site alterations with high confidence. The methodology employs library preparation, clonal amplification, and sequencing on an Illumina platform, achieving mean read depth >100× across the target region. Bioinformatics analysis uses validated pipelines aligned to GRCh38/hg38, and all clinically actionable findings are confirmed by orthogonal Sanger sequencing before reporting. A detailed clinical report includes variant classification per ACMG/AMP guidelines, zygosity, and inheritance commentary. Pre‑test genetic counselling is strongly recommended to construct a three‑generation pedigree and discuss the implications of potential results. No fasting is required; patients should continue all prescribed medications unless their physician advises otherwise. Accepted specimen types: whole blood (EDTA tube), extracted genomic DNA (minimum 1 µg), or dried blood spot on FTA card. Sample collection is performed through our ISO‑certified cold‑chain logistics network; mobile home phlebotomy is available daily from 8 AM to 11 PM.
| Feature | DNA Labs UAE NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full gene coverage | Sanger Sequencing – limited to known hotspot regions |
| Diagnostic Precision | 99.9% analytical sensitivity, >100× mean depth, all coding exons | Lower sensitivity, restricted to targeted exons only |
| Turnaround Time | 3–4 weeks from sample receipt | 4–6 weeks from sample receipt |
| Sample Requirement | Whole blood (EDTA), extracted DNA, or dried blood spot | Whole blood (EDTA) only |
| Variant Detection Scope | SNVs, indels, splice‑site variants, CNVs (limited) | SNVs only at predefined loci |
Physician Insight & Safety Protocols
“A molecular diagnosis in a rare syndromic disorder such as Gillespie syndrome transforms uncertainty into a structured care pathway. This NGS assay provides comprehensive coverage of the ITPR1 gene, enabling precise variant classification and recurrence risk counselling for affected families. I emphasise the critical need to correlate genomic findings with a detailed clinical examination, including ophthalmologic and neurologic assessments. Post‑test genetic counselling is essential to discuss the implications for the patient and at‑risk relatives. Our laboratory workflow adheres to international quality standards, and every report is reviewed by a board‑certified clinical geneticist before release.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory & Pre‑Test Recommendations
Medication Advisory: Do not discontinue or alter any prescribed medication without consulting your treating physician. Abrupt changes may lead to adverse clinical events. Inform our team of all current medications and supplements during the pre‑test consultation.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Age under 18 years without written informed consent from a parent or legal guardian, as required by UAE Federal Law No. 2 of 2019 on health information usage.
- Exclusion: Active systemic infection or any medical condition that contraindicates peripheral blood collection.
- Red Flag: Acute, painless vision loss or sudden onset of aniridia symptoms — seek immediate ophthalmic evaluation at the nearest hospital.
- Red Flag: New‑onset ataxia, frequent falls, or progressive unsteady gait — obtain an urgent neurological assessment.
- Red Flag: Deteriorating consciousness, confusion, or seizure activity — call 998 for emergency medical assistance in the UAE.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of ITPR1 gene testing?
This NGS‑based genetic test confirms a diagnosis of Gillespie syndrome by detecting pathogenic variants in the ITPR1 gene. The results enable accurate prognosis, targeted surveillance for cerebellar and ophthalmologic complications, and informed family planning through recurrence risk estimation. A definitive molecular diagnosis also avoids unnecessary investigations for other syndromic causes of aniridia and ataxia.
2. How reliable is the NGS method for ITPR1 analysis?
Our validated NGS workflow achieves 99.9% analytical sensitivity and >100× mean read depth across the entire ITPR1 coding region and flanking splice sites. All clinically significant variants are independently confirmed using Sanger sequencing, ensuring maximal accuracy. This approach detects single‑nucleotide variants, small insertions/deletions, and splice‑site alterations that conventional targeted methods may miss.
3. Can I order this test directly without a doctor referral?
Self‑referral is accepted at DNA Labs UAE. However, we strongly recommend a pre‑test genetic counselling session to review personal and family history, discuss the scope and limitations of the test, and provide informed consent. Post‑test counselling is equally important for understanding the clinical significance of results and the implications for at‑risk family members. Our genetics team is available to guide you through every step.
4. What sample types are accepted and how should I prepare?
We accept whole blood collected in EDTA tubes, extracted genomic DNA (minimum 1 µg), or dried blood spots on FTA cards. No fasting or special preparation is needed—continue all prescribed medications unless your physician advises otherwise. Our mobile phlebotomy service can collect samples at your home between 8 AM and 11 PM daily, using ISO‑certified cold‑chain transport to ensure specimen integrity.
5. How long does it take to get results and how are they delivered?
The standard turnaround time is 3–4 weeks from sample receipt. Results are delivered electronically through our secure patient portal and as a printed clinical report signed by our Consultant Medical Genetics. A post‑test genetic counselling session is scheduled to explain the findings, discuss management recommendations, and address any questions you or your family may have.
UAE Regulatory & Data Privacy Adherence
Data Protection Framework: All genetic data generated through this test is processed and stored 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. Clinical safety, patient consent, and professional liability are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License No. 1143 and maintains ISO 9001:2015 certification for its quality management system. Patient information is encrypted during transmission, access is restricted to authorised clinical personnel, and identifiable data is retained only as required by UAE health regulations. No data is shared with third parties without explicit written consent. You have the right to request access to, correction of, or deletion of your personal data in accordance with PDPL provisions.
Clinical & Logistical Metadata
| Test Name | ITPR1 Gene Gillespie Syndrome Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA tube), extracted genomic DNA (≥1 µg), or dried blood spot on FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina platform, with orthogonal Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 94497-5 (DNA sequencing of a specific gene for genetic analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 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