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2,800 AED

✅ Home Collection Available

MMAA Gene Methylmalonic Aciduria, CblA Type – NGS Genetic Test in UAE | 2,800 AED | DNA Labs UAE

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139). Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Clinical Guidance: Mandatory pre-test genetic counselling and telephonic post-test interpretation included. Insurance: Direct billing verification and pre-authorisation via WhatsApp at +971 54 548 8731.

Test Price: 2,800 AED | Turnaround Time: 21–28 calendar days (3–4 weeks) | DHA Facility License: 1143

Test Overview & Methodology

The MMAA Gene Methylmalonic Aciduria CblA Type NGS Test is a comprehensive genetic analysis that interrogates the entire MMAA gene for pathogenic variants causing CblA-type methylmalonic aciduria, a treatable inborn error of metabolism. Performed under DHA-mandated protocols, this test supports clinical geneticists, metabolic physicians, and primary care doctors in confirming a diagnosis, guiding vitamin B12 (cobalamin) therapy, and enabling early intervention for affected individuals.

Feature Our Test (NGS DNA Sequencing) Closest Alternative (Biochemical Metabolite Screen)
Diagnostic Precision 99.9% sensitivity – detects single nucleotide variants, indels, and copy number changes Limited – measures methylmalonic acid levels only; may miss mild or intermittent cases
Methodology Next-Generation Sequencing (NGS) with Sanger confirmation Gas Chromatography-Mass Spectrometry (GC-MS) of urine organic acids
Turnaround Time 3 to 4 Weeks (standard) 1 to 2 Weeks

Physician Insight & Safety Protocols

“As a Consultant in Medical Genetics practising within Dubai Healthcare City, I understand the complex diagnostic pathway families navigate when a metabolic disorder is suspected. The MMAA gene NGS test delivers definitive molecular confirmation of CblA-type methylmalonic aciduria, enabling tailored vitamin B12 therapy and accurate recurrence risk counselling. However, each genetic finding must be correlated with the patient’s metabolic profile and clinical presentation to ensure appropriate management.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Clinical Advisory & Medication Guidance

Do not alter or discontinue prescribed vitamin B12 injections, metabolic formulas, or any other medication without consulting your treating physician. This test provides diagnostic clarity; all treatment modifications must be medically supervised and based on the complete clinical picture.

Safety Exclusion Criteria & Emergency Indicators

  • Exclusion: Active febrile illness requiring hospitalisation; coagulopathy or concurrent anticoagulant therapy contraindicating venipuncture. Alternative sample collection (FTA card or pre-extracted DNA) may be arranged after clinical consultation.
  • Red Flags: Sudden onset of vomiting, altered consciousness, seizures, or respiratory distress in a patient with suspected metabolic disease. Seek emergency medical care immediately; do not delay treatment awaiting genetic results.
  • Pre-Test Requirement: A mandatory genetic counselling session including a three-generation pedigree analysis and a completed clinical history form.
  • Specimen Logistics: Whole blood, extracted DNA, or one drop of blood on an FTA card accepted. Collection must be performed by a certified phlebotomist in ISO-certified cold-chain conditions.

Patient FAQ & Clinical Guidance

1. What does the MMAA gene test detect?

This NGS test sequences the entire MMAA gene to identify pathogenic variants that cause vitamin B12-responsive methylmalonic aciduria, CblA type.

It provides a definitive molecular diagnosis, distinguishes CblA from other forms of methylmalonic acidemia, and enables carrier testing, family screening, and informed reproductive planning. The analysis covers all coding regions and splice sites with Sanger confirmation of clinically significant variants.

2. Who should consider this genetic test in the UAE?

Individuals with metabolic acidosis, developmental delay, neurological signs, or a family history of methylmalonic aciduria are appropriate candidates for testing.

The test is indicated for symptomatic patients from neonates to adults, asymptomatic siblings of confirmed cases, couples with known carrier status, and infants with abnormal newborn screening results. A referral from a metabolic physician or clinical geneticist is strongly recommended.

3. How long does the test take and how are results delivered?

Results are typically available within 21 to 28 calendar days and are delivered through a secure online portal with full data confidentiality.

The comprehensive report details the identified genetic variant, its clinical classification according to ACMG guidelines, and relevant therapeutic implications. A telephonic post-test consultation with a genetic counsellor is included to explain the findings and discuss next steps.

UAE Regulatory & Data Privacy Adherence

All laboratory processes are performed under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). This test complies 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 for the secure handling of health data. Clinical safety and patient consent requirements adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License Number 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.

Clinical & Logistical Metadata

Test Name MMAA Gene Methylmalonic Aciduria, CblA Type – NGS Genetic Test
Price (AED) 2,800 AED
Turnaround Time 21–28 Calendar Days (3–4 Weeks)
Sample Type / Matrix Whole Blood (Peripheral), Extracted DNA, or FTA Card (Dried Blood Spot)
Methodology Used Next-Generation Sequencing (NGS) with Sanger Confirmation
ICD-10-CM Code E71.111, Z14.01, Z13.228
LOINC Code 81642-5
DHA Facility License & Laboratory Address License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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