Test Price
2,800 AED✅ Home Collection Available
MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test in UAE | 2800 AED | DHA Licensed
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 Logistics & VIP Mobile Phlebotomy.
- Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Guidance for Result Interpretation by DHA‑Licensed Genetic Counselors.
- Insurance: Direct Billing Verification – Send policy details via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The MMACHC gene test detects pathogenic variants causing methylmalonic aciduria and homocystinuria, cblC type – a treatable inherited metabolic disorder – with NGS precision. This analysis employs Next‑Generation Sequencing (NGS) technology covering the full coding region of the MMACHC gene, delivering >99.9% analytical sensitivity for single nucleotide variants, insertions, deletions, and splice‑site alterations. The assay is validated for EDTA whole blood specimens and dried blood spot cards, with a minimum DNA input of 50 ng.
| Feature | Our Test (PRIME) | Closest Alternative |
|---|---|---|
| Precision | NGS – full gene sequencing with >99.9% analytical sensitivity | Sanger sequencing – lower sensitivity, may miss deep intronic variants |
| Methodology | Next‑Generation Sequencing (NGS) with full coding region coverage | Targeted mutation panel – only known hotspot variants |
| Turnaround Time | 3 – 4 Weeks | 4 – 6 Weeks |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Genetics, I advise that this NGS test identifies inherited MMACHC variants that may explain metabolic crises, but must be correlated with plasma acylcarnitines and urine organic acids. Never adjust treatment protocols without consulting your physician. This result is a compass for therapeutic decisions, not a substitute for clinical judgment.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
⚠ Medication Warning: Do not discontinue any prescribed vitamin B12, betaine, or dietary supplements without consulting your treating metabolic physician.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- DNA sample not meeting quality/quantity thresholds.
- Testing without prior genetic counselling (mandatory per UAE regulation).
- Minors without guardian consent as per applicable child protection laws.
ER Red Flags (Seek Immediate Emergency Care)
- Acute vomiting, lethargy, or encephalopathy.
- Seizures or loss of consciousness.
- Severe metabolic acidosis or hyperammonemia.
This genetic test is for carrier/diagnostic confirmation and is not designed for acute crisis management.
Patient FAQ & Clinical Guidance
1. What is the MMACHC gene test used for?
This test is ordered to confirm a diagnosis of methylmalonic aciduria and homocystinuria type cblC in individuals with suggestive biochemical findings, or to determine carrier status in at‑risk family members. It may also guide prenatal planning for couples with known familial pathogenic variants. Genetic counselling before and after testing is mandatory to ensure informed decision‑making.
2. How is the specimen collected?
A certified phlebotomist collects 2–5 mL whole blood in an EDTA tube or a dried blood spot on an FTA card during a scheduled home visit. The sample is transported under cold‑chain conditions to our ISO 9001:2015‑certified laboratory. DNA extraction, library preparation, and full MMACHC coding region sequencing follow. Results are reported within 3–4 weeks with a comprehensive clinical interpretation.
3. What do positive results mean for management?
A pathogenic MMACHC variant confirms cblC deficiency, prompting immediate initiation of hydroxocobalamin injections and metabolic dietary therapy to prevent irreversible neurological damage. Early detection dramatically improves outcomes. Your metabolic specialist will tailor the treatment regimen; self‑medication is strictly contraindicated.
4. Can this test be used for newborn screening?
While the test is highly accurate for diagnostic confirmation, it is not intended as a first‑tier newborn screening tool. In the UAE, newborn screening for organic acidemias is performed via tandem mass spectrometry (MS/MS). This NGS test serves as a confirmatory assay following abnormal biochemical results or for family cascade screening.
UAE Regulatory & Data Privacy Adherence
This test and its associated data handling comply 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. Clinical safety and patient consent standards follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed, stored, and transmitted within the UAE under DHA‑approved encryption protocols. Direct billing verification is available by sending policy details via WhatsApp.
Clinical & Logistical Metadata
| Test Name | MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Coding Region Coverage |
| ICD-10-CM Code | E71.1 |
| LOINC Code | 86565-2 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 — DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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