Test Price
2,800 AEDโ Home Collection Available
PET100 Gene Mitochondrial Complex IV Deficiency Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: This next-generation sequencing (NGS) test screens the complete coding region of the PET100 gene to identify pathogenic variants responsible for mitochondrial complex IV deficiency (cytochrome c oxidase deficiency). The assay delivers 99.9% analytical sensitivity and is indicated for patients with unexplained neurological regression, suspected Leigh syndrome, or familial mitochondrial disease. All data are protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
Test Overview & Methodology
This advanced NGS assay interrogates all coding exons and flanking splice-site regions of the PET100 gene with a minimum mean depth of coverage exceeding 100x. Pathogenic variants in PET100 disrupt assembly of mitochondrial complex IV, impairing oxidative phosphorylation and ATP production. The test is recommended by neurologists and metabolic disease specialists for patients presenting with hypotonia, developmental delay, lactic acidosis, or leukodystrophy patterns on neuroimaging. Identification of a molecular diagnosis enables targeted metabolic management, carrier testing for at-risk relatives, and avoidance of unnecessary invasive procedures.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% analytical sensitivity, full gene coverage | 80โ90% with targeted Sanger panels |
| Method | Next-Generation Sequencing (NGS) | Sanger Sequencing / Enzyme Assay |
| Speed | 3โ4 Weeks (ISO-accredited lab) | 5โ8 Weeks |
Physician Insight & Safety Protocols
โMitochondrial disorders present complex diagnostic challenges that require precise molecular confirmation. The PET100 gene analysis provides critical insights for patients presenting with unexplained neurological symptoms, enabling targeted clinical management and family counseling. Results must always be correlated with comprehensive clinical and biochemical evaluation to guide therapeutic decisions.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Advisory
Genetic counseling by a qualified professional is strongly recommended prior to testing to ensure informed consent, discuss potential findings including variants of uncertain significance, and document a three-generation pedigree. Patients should continue all prescribed medications unless explicitly directed otherwise by their treating physician. This test does not replace routine clinical monitoring or metabolic follow-up.
Exclusion Criteria & Safety Considerations
- Individuals with active bleeding disorders or on high-dose anticoagulant therapy without documented medical clearance for venipuncture.
- Severe dermatological conditions or infection at all potential collection sites.
- Emergency warning: Acute onset of seizures, sudden loss of consciousness, or respiratory distress requires immediate emergency department evaluation. This diagnostic assay is not a substitute for urgent medical care.
Patient FAQ & Clinical Guidance
1. What is the PET100 gene test and who should consider it?
The PET100 NGS test detects pathogenic variants in the PET100 gene that cause mitochondrial complex IV deficiency. It is recommended for individuals with unexplained neurological regression or developmental delay, clinical suspicion of Leigh-like syndromes, family history of mitochondrial disease, or abnormal metabolic screening suggestive of respiratory chain dysfunction.
2. How is the sample collected and what pre-test preparation is required?
A standard peripheral blood sample is collected by a DHA-licensed phlebotomist during a home visit. A mandatory pre-test genetic counseling session is conducted by telephone or in person to document family history and obtain informed consent. No special dietary or medication restrictions are required prior to collection.
3. What is the turnaround time and how will I receive my results?
Results are delivered within 3 to 4 weeks via a secure electronic report. Each report includes a telephonic interpretation session with a consultant medical geneticist who explains the clinical implications, variant classification, and recommended next steps for patient management and family cascade testing.
4. What does a positive result mean for my health and my family?
A pathogenic variant in PET100 confirms a diagnosis of mitochondrial complex IV deficiency, which may guide metabolic therapy, surveillance for multisystem involvement, and genetic counseling for at-risk relatives. Family planning options including prenatal or preimplantation genetic testing can be discussed with your genetic counselor.
5. Is home collection available for this genetic test?
Yes, VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM. A DHA-licensed phlebotomist visits your residence after scheduling via WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Clinical & Logistical Metadata
| Test Name | PET100 Gene Mitochondrial Complex IV Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (21โ28 Calendar Days) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Buccal Swab, or FTA Card โ Non-Invasive Collection |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Coding Region and Flanking Splice Sites, Mean Depth >100x |
| ICD-10-CM Code | E88.49 (Other mitochondrial metabolism disorders) |
| LOINC Code | 21635-9 (Mitochondrial DNA gene analysis) |
| DHA Facility License & Lab Address | License: 1143 | DNA Labs UAE โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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