Test Price
2,800 AED✅ Home Collection Available
MCEE Gene Methylmalonyl‑CoA Epimerase Deficiency Genetic Test in UAE
Executive Summary & Core Metrics
Definitive Molecular Diagnosis for Methylmalonyl‑CoA Epimerase Deficiency
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited next‑generation sequencing (NGS) processing on the Illumina® platform.
- Premium Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
- Clinical Guidance: Complimentary telephonic post‑test interpretation provided by a DHA‑licensed Consultant Medical Genetics specialist.
- Insurance Support: Instant direct billing verification via WhatsApp at +971 54 548 8731 prior to sample collection.
Test Overview & Methodology
This next‑generation sequencing assay analyses the entire coding region and conserved splice sites of the MCEE gene to detect pathogenic and likely pathogenic variants responsible for Methylmalonyl‑CoA Epimerase Deficiency (OMIM #251120), a rare autosomal recessive organic aciduria. The test provides definitive molecular confirmation essential for accurate prognosis, carrier screening, and prenatal or preimplantation genetic diagnosis.
| Feature | MCEE NGS Gene Test | Standard Biochemical Screen |
|---|---|---|
| Technology | Full‑gene Next‑Generation Sequencing (Illumina® platform) | Urine organic acid analysis (GC‑MS) |
| Diagnostic Specificity | >99.9% – identifies point mutations, indels, and splice‑site variants with expert ACMG curation | Moderate – may miss mild or intermittent cases; requires genetic follow‑up |
| Turnaround Time | 21–28 calendar days | 5–10 business days |
| Clinical Utility | Definitive molecular confirmation, carrier testing, prenatal/preimplantation genetic diagnosis | Initial screening only; always requires confirmatory molecular testing |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the profound impact a rare metabolic diagnosis has on families. This MCEE gene test delivers the definitive molecular answer needed for accurate genetic counselling, informed reproductive planning, and lifelong management. However, molecular results must always be integrated with biochemical and clinical data — never interpreted in isolation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory & Metabolic Safety
Do Not Discontinue Prescribed Therapy
Patients receiving metabolic formulas, levocarnitine, hydroxocobalamin (vitamin B12), or any disease‑specific therapy must not alter or stop their medication without direct consultation with their managing metabolic physician. Abrupt discontinuation can precipitate acute metabolic decompensation including hyperammonaemia and severe acidosis.
Exclusion Criteria & Emergency Red Flags
- Home collection exclusion: Patients experiencing acute metabolic stress (hyperammonaemia, severe metabolic acidosis, altered consciousness, fever >38.5 °C, or active infection) must defer sample collection until clinical stabilisation — proceed only under hospital supervision.
- Emergency red flags: If vomiting, lethargy, tachypnoea, or seizures develop after blood draw but before results, attend the nearest Emergency Department immediately. This represents a possible metabolic crisis unrelated to the venipuncture.
Patient FAQ & Clinical Guidance
1. What is the MCEE Gene Methylmalonyl‑CoA Epimerase Deficiency Genetic Test?
This molecular diagnostic assay analyses the MCEE gene to identify pathogenic variants causing methylmalonyl‑CoA epimerase deficiency, an autosomal recessive organic aciduria. It provides definitive confirmation for affected individuals and enables accurate carrier testing for at‑risk family members. The test is performed on a single peripheral blood sample using next‑generation sequencing technology.
2. How long does it take to receive results?
Results are typically reported within 21 to 28 calendar days from sample receipt. This interval includes genomic DNA extraction, library preparation, sequencing, bioinformatics analysis, and clinical interpretation by a Consultant Medical Genetics specialist. An expedited report can be arranged upon written medical request if clinically urgent.
3. How is the sample collected and can it be done at home?
Sample collection requires a standard peripheral venipuncture (whole blood in EDTA). DNA Labs UAE offers VIP mobile phlebotomy with temperature‑controlled cold‑chain transport across all UAE emirates, available daily from 8 AM to 11 PM. A certified phlebotomist will visit your home or office, ensuring full biosafety compliance and proper sample preservation.
4. Is the test covered by health insurance in the UAE?
Many UAE health insurers reimburse this diagnostic genetic test when pre‑authorised. Our billing team handles direct verification with your insurer. Send your insurance card photograph via WhatsApp to +971 54 548 8731 for instant eligibility confirmation before scheduling the blood draw.
5. Who should consider this genetic test?
This test is indicated for individuals with clinical or biochemical suspicion of methylmalonic acidemia, particularly those with elevated methylmalonic acid and C3‑acylcarnitine on newborn screening or metabolic workup. It is also appropriate for asymptomatic siblings of an affected proband, carrier couples considering family planning, and patients with unexplained metabolic encephalopathy or failure to thrive of unknown aetiology.
UAE Regulatory & Data Privacy Adherence
Trusted Diagnostic Compliance Framework
- Data Protection: All genomic and personal data are processed under Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) with enterprise‑grade encryption standards.
- Health Information Governance: Fully compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record integration.
- Clinical Safety & Patient Consent: Diagnostic procedures and informed consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability, guaranteeing patient‑centric care standards.
- Accreditation: ISO 9001:2015 certified (Certificate: INT/EGQ/2509DA/3139) and DHA‑licensed for high‑complexity molecular genetic testing.
- Specialist Referral Pathway: Results are reviewed and reported by a Consultant Medical Genetics specialist; long‑term management coordinated with Metabolic Medicine and Paediatric services as needed.
Clinical & Logistical Metadata
| Test Name | MCEE Gene Methylmalonyl‑CoA Epimerase Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 calendar days |
| Sample Type / Matrix | Whole Blood (Peripheral, EDTA) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Analysis, Illumina® Platform |
| ICD‑10‑CM Code | E71.128, E71.120, Z13.79 |
| LOINC Code | 101334‑8 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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