Test Price
2,800 AEDโ Home Collection Available
LRPPRC Gene Sequencing (Leigh Syndrome, French-Canadian Type) โ Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic result interpretation by DHA-licensed genetics specialists.
- Insurance & Billing: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test analyzes the LRPPRC gene to precisely diagnose Leigh syndrome, French-Canadian type, offering 99.9% sensitivity and 100% target coverage. It identifies known and novel pathogenic variants, enabling early intervention and familial genetic counselling.
| Feature | Our LRPPRC NGS Test | Whole Exome Sequencing (Alternative) |
|---|---|---|
| Precision | Targeted high-depth sequencing of LRPPRC gene with >99% analytical sensitivity and specificity | Broad exome coverage; lower read depth at LRPPRC locus may miss variants |
| Methodology | Illumina-based NGS with full gene sequencing and deletion/duplication analysis | Whole exome capture followed by NGS |
| Turnaround Time (TAT) | 3โ4 Weeks | 6โ8 Weeks |
| Cost | 2,800 AED | 4,500โ5,000 AED (estimated) |
Physician Insight & Safety Protocols
โAs a DHA-licensed consultant in medical genetics, I emphasize that this genetic test provides critical diagnostic confirmation for Leigh syndrome, French-Canadian type, but must always be correlated with clinical presentation, neuroimaging, and biochemical markers. Genetic findings alone cannot replace comprehensive neurological evaluation and multidisciplinary management.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication and Treatment Considerations
Do not discontinue or alter any prescribed medication without consulting your treating physician. Genetic test results may inform therapy but should never prompt unsupervised changes to existing treatment plans.
Exclusion Criteria & Emergency Red Flags
- Patients with severe coagulopathy or platelet disorders precluding blood draw.
- Neonates with insufficient blood volume for standard venipuncture (alternative sample types may be accepted after consultation).
- Seek immediate emergency care if you or the patient experiences: acute respiratory distress, seizures, loss of consciousness, or rapid neurological deteriorationโdo not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the LRPPRC gene test, and why is it needed?
Snippet: The LRPPRC gene test detects pathogenic variants causing Leigh syndrome, French-Canadian type, to confirm diagnosis and guide management.
This NGS-based assay screens for known and novel mutations in the LRPPRC gene with high accuracy, enabling early intervention and genetic counselling for affected families. The test is indicated for infants and children presenting with neurological regression, hypotonia, and typical MRI findings.
2. How is the sample collected, and is home collection available?
Snippet: Our certified phlebotomists collect a small blood sample at your home via cold-chain transport, ensuring sample integrity and convenience.
We offer VIP home collection across the UAE from 8 AM to 11 PM, using ISO-certified cold-chain logistics. Acceptable sample types include whole blood, extracted DNA, or a single drop of blood on an FTA card. The process is swift and minimally invasive.
3. What do the results mean, and how long does it take?
Snippet: Results indicate the presence/absence of LRPPRC mutations, with turnaround time of 3โ4 weeks, including genetic counselling.
A positive result confirms the diagnosis and allows for tailored management and family planning. A negative result reduces the likelihood of this specific genetic cause, but further clinical evaluation may be needed. We provide a comprehensive report and telephonic clinical guidance to interpret the findings.
UAE Regulatory & Data Privacy Adherence
All genetic data processed through this test is handled 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. Patient consent, data encryption, and secure storage protocols are strictly enforced to ensure confidentiality and integrity of genomic information.
Clinical & Logistical Metadata
| Test Name | LRPPRC Gene Sequencing (Leigh Syndrome, French-Canadian Type) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card (VIP Mobile Phlebotomy & Cold-Chain Home Collection available) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina platform, full gene coverage with deletion/duplication analysis |
| ICD-10-CM Code | G31.82 (Leigh syndrome) |
| LOINC Code | 81247-9 (LRPPRC gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
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All reports reviewed by DHA-Certified physicians