Test Price
2,800 AEDโ Home Collection Available
MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test in Dubai
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This genetic test employs Next-Generation Sequencing (NGS) to evaluate the entire coding region of the MPC1 gene for pathogenic variants associated with mitochondrial pyruvate carrier deficiency, a rare autosomal recessive metabolic disorder. The results provide a definitive molecular diagnosis, guiding personalized dietary and medical management.
| Feature | Our NGS Test | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing with CNV detection | Biochemical pyruvate oxidation assay |
| Methodology | NGS validated by LC-MS/MS metabolite correlation | Enzyme activity measurement in fibroblasts |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
โThis test provides a definitive molecular diagnosis for mitochondrial pyruvate carrier deficiency. It is essential to correlate results with clinical presentation, metabolic markers, and family history. Our team is dedicated to supporting you with clear, compassionate post-test guidance.โ
โ Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your physician.
Exclusion Criteria & Emergency Red Flags
- Acute metabolic decompensation; stabilize medically before sample collection.
- Clotted, hemolyzed, or inadequately preserved samples may result in rejection.
- ER Red Flags: Newโonset lethargy, recurrent vomiting, seizures, or abnormal movements โ seek emergency care immediately as these may indicate a metabolic crisis.
Patient FAQ & Clinical Guidance
1. What is the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test?
This NGS-based test analyzes the MPC1 gene to identify pathogenic mutations responsible for mitochondrial pyruvate carrier deficiency. It detects single nucleotide variants, small insertions/deletions, and copy number changes, enabling a precise molecular diagnosis for this rare metabolic disorder.
2. How is the sample collected for this test?
The test accepts whole blood, extracted DNA, or dried blood spots on FTA cards. Our VIP mobile phlebotomy service collects samples at your preferred location using strict cold-chain transport to ensure sample integrity.
3. How long until the results are ready?
Results are typically available within three to four weeks from sample receipt. This timeline includes NGS sequencing, bioinformatics analysis, and a physician-signed report delivered securely to you and your referring doctor.
UAE Regulatory & Data Privacy Adherence
This service 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. Clinical testing safety and patient consent comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (DBS) on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV detection |
| ICD-10-CM Code | E74.89 |
| LOINC Code | 21636-7 |
| DHA Facility License & Laboratory Address | DHA License: 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians