Test Price
2,800 AED✅ Home Collection Available
ITPR1 Gene Spinocerebellar Ataxia Type 29 (SCA29) Genetic Test in UAE — 2800 AED DHA-Licensed Molecular Diagnosis
Executive Summary & Core Metrics
Uncompromising Clinical Accuracy & UAE-Compliant Care
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test result interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731.
This definitive molecular test detects pathogenic variants in the ITPR1 gene responsible for Spinocerebellar Ataxia Type 29, a rare congenital nonprogressive cerebellar ataxia. Our ISO-accredited laboratory delivers results within 3–4 weeks, supported by expert genetic counselling tailored to each family in the UAE.
Test Overview & Methodology
ITPR1 Gene SCA29 Test – Next-Generation Sequencing (NGS)
This advanced genetic test analyses the entire coding sequence of the ITPR1 gene to detect pathogenic variants responsible for Spinocerebellar Ataxia Type 29, a rare congenital nonprogressive cerebellar ataxia. It empowers Neurologists, Pediatricians, and Clinical Geneticists with definitive molecular diagnosis, facilitating early intervention and genetic counselling for affected families in the UAE.
| Feature | Our Test (AMPS Laboratory) | Closest Alternative (Routine SCA Panel) |
|---|---|---|
| Technology | Full-gene NGS (Illumina NovaSeq) with CNV detection | Targeted PCR for common SCA repeats only |
| Coverage | 100% of ITPR1 coding exons ±20 bp flanking introns | Omits ITPR1; focused exclusively on polyglutamine expansion SCAs |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks (but no ITPR1 data) |
| Post-Test Support | DHA-certified genetic counselling & report explanation | Basic report only |
Physician Insight & Safety Protocols
Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA Registration ID: 9294403) shares: “Detecting an ITPR1 mutation provides a clear molecular anchor for families navigating early neurodevelopmental uncertainty. I always correlate the genetic finding with a comprehensive clinical assessment—motor milestones, neurological exam, and brain imaging. A positive result does not define a child’s future; it opens the door to targeted therapies, structured follow-up, and informed family planning. We are committed to supporting you at every stage with empathy and clinical precision.”
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Any adjustments to therapy must be supervised by the treating specialist.
Safety Exclusion Criteria & Emergency Red Flags
- Inability to provide a DNA sample (blood, FTA card, or extracted DNA) due to severe haemodynamic instability.
- Uncontrolled bleeding disorders or acute anticoagulation that contraindicate venipuncture.
- Minors must have a parent or legal guardian present for sample collection and provide written consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- If the patient experiences sudden worsening of balance, vision loss, difficulty swallowing, or respiratory distress, immediately proceed to the nearest emergency department.
- This test is diagnostic only; it does not assess treatment efficacy or disease progression in real time.
Patient FAQ & Clinical Guidance
1. What does the ITPR1 gene test detect and who should consider it?
The ITPR1 gene test identifies pathogenic mutations causing Spinocerebellar Ataxia Type 29, a rare congenital nonprogressive ataxia, enabling precise molecular diagnosis for early-life balance and coordination difficulties. It is recommended for infants and children presenting with delayed motor milestones, truncal ataxia, hypotonia, and oculomotor apraxia, especially when there is a family history of SCA29. A clinical geneticist or paediatric neurologist typically orders this test after ruling out common ataxias.
2. How is the sample collected and what are the turnaround times?
A blood sample, extracted DNA, or a single drop of blood on an FTA card is collected from your home or hospital by our DHA-licensed phlebotomist under ISO-controlled cold-chain logistics. For children and infants, we use a gentle finger-prick or heel-prick method when an FTA card is chosen, significantly reducing discomfort. Results are delivered within 3 to 4 weeks via a secure encrypted portal, with an optional telephonic genetic counselling session.
3. Are there any legal or parental consent requirements for minors in the UAE?
Yes, under Federal Decree-Law No. 4 of 2016 on Medical Liability, a minor’s genetic test requires written consent from a parent or legal guardian, and all results are protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Our laboratory obtains verified consent at the time of sample collection and maintains a chain of custody with full biometric documentation. Insurance billing for minors follows DHA circulars, which we manage directly with your provider via WhatsApp (+971 54 548 8731).
UAE Regulatory & Data Privacy Adherence
Compliance With UAE Law and International Standards
Our service strictly adheres to 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. All genetic data is stored locally under MOHAP oversight. ISO 9001:2015 certification (INT/EGQ/2509DA/3139) guarantees internationally audited quality management. Patient consent and safety protocols comply with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | ITPR1 Gene Spinocerebellar Ataxia Type 29 (SCA29) Genetic Test – Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, FTA Card, or Extracted DNA (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM) |
| Methodology Used | Full-gene NGS (Illumina NovaSeq) with CNV detection – 100% ITPR1 coding exons ±20 bp flanking introns |
| ICD-10-CM Code | G11.0 (Congenital nonprogressive cerebellar ataxia), G11.8 (Other hereditary ataxia) |
| LOINC Code | 82317-1 (Gene targeted mutation analysis in Blood or Tissue by Sequencing) |
| 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