Test Price
2,800 AED✅ Home Collection Available
SPR Gene Dystonia (DOPA‑Responsive, Autosomal Recessive) Genetic Test (NGS) – 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
DNA Labs UAE offers an ISO‑certified Next Generation Sequencing (NGS) genetic test targeting the SPR gene for DOPA‑responsive dystonia (autosomal recessive). The analysis achieves >99.9% diagnostic sensitivity across all coding exons and flanking splice‑site regions. The test is priced at 2,800 AED inclusive of genetic counselling support. VIP mobile phlebotomy with temperature‑controlled cold‑chain transport is available across all UAE emirates from 8 AM to 11 PM.
- ✓ Accuracy Guarantee: >99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015)
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM)
- ✓ Clinical Guidance: Expert telephonic post‑test result interpretation by a Consultant Medical Geneticist
- ✓ Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The SPR Gene Dystonia (DOPA‑Responsive, Autosomal Recessive) Genetic Test detects pathogenic variants in the sepiapterin reductase (SPR) gene essential for tetrahydrobiopterin (BH4) biosynthesis and neurotransmitter synthesis. This targeted NGS assay confirms the molecular diagnosis of DOPA‑responsive dystonia, enabling precise levodopa therapy that can dramatically improve motor function and quality of life.
The methodology employs next‑generation sequencing with orthogonal Sanger confirmation for all clinically actionable variants. Bioinformatic analysis covers single nucleotide variants, small insertions/deletions, and copy number variations across the entire coding region and canonical splice sites.
| Feature | Our SPR NGS Test | Closest Alternative (Gene Panel / WES) |
|---|---|---|
| Precision | Single‑gene focused with >99.9% coverage of coding regions ±10 bp | Broader but may miss deep intronic mutations or offer lower read depth for SPR |
| Methodology | NGS with orthogonal Sanger confirmation | NGS panel or whole‑exome sequencing; may require second‑tier confirmation |
| Turnaround Time | 3–4 Weeks (targeted) | 4–8 Weeks (often longer for exome) |
Physician Insight & Safety Protocols
“This targeted NGS assay provides definitive molecular confirmation of DOPA‑responsive dystonia caused by biallelic SPR mutations. A positive result guides levodopa therapy that can restore normal motor function in many patients. Clinicians must interpret genetic findings in the context of full neurological examination and family pedigree. A negative result does not rule out other genetic or acquired dystonias. Continue all current medications and consult your neurologist before adjusting therapy.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, modify, or initiate any prescribed medication without explicit guidance from your treating neurologist. Genetic test results are intended to inform clinical management, not replace it.
Safety Exclusion Criteria & Emergency Red Flags
- Not indicated for patients experiencing acute neurological emergencies such as rapid loss of consciousness, status dystonicus, or suspected stroke. Call 998 (UAE Ambulance) immediately.
- If sudden severe dystonic storms, breathing difficulty, or signs of autonomic instability develop, seek emergency care without delay.
- Unsuitable as a standalone screening test in the absence of clinical suspicion; pre‑test genetic counselling is mandatory before sampling.
Patient FAQ & Clinical Guidance
1. What does the SPR gene test diagnose?
This test identifies pathogenic variants in the SPR gene linked to DOPA‑responsive dystonia, an autosomal recessive disorder highly responsive to levodopa therapy. The analysis covers all coding exons and splice‑site regions, detecting single nucleotide variants, small indels, and copy number variations. A definitive molecular diagnosis allows targeted treatment and family counselling.
2. How long do results take and what is the cost?
Results are typically delivered within 3 to 4 weeks, with a total cost of 2,800 AED inclusive of genetic counselling support. You will receive a comprehensive report with variant interpretation and a tele‑consultation with a Consultant Medical Geneticist to discuss the findings and clinical implications.
3. Is home blood collection available across the UAE?
Yes, we offer VIP mobile phlebotomy across all seven emirates from 8 AM to 11 PM, with ISO‑certified temperature‑controlled cold‑chain transport. A skilled phlebotomist arrives at your preferred location, and the sample is immediately processed to preserve DNA integrity for sequencing.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
This service operates in full compliance with UAE 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 genomic data is processed locally within accredited facilities under strict confidentiality controls. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Laboratory accredited to ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License No. 1143. All genetic testing is performed in accordance with international standards for molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | SPR Gene Dystonia (DOPA‑Responsive, Autosomal Recessive) Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) |
| Methodology Used | Next Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | G24.8, Z14.8, Z36.89 |
| LOINC Code | 94309-9 |
| DHA Facility License & Laboratory Address | DHA Facility 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