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Test Price

2,800 AED

✅ Home Collection Available

MAT1A Gene Methionine Adenosyltransferase Deficiency Genetic Test (Autosomal Recessive) – NGS Sequencing

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2012 Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM).
  • Clinical Guidance: Complimentary Telephonic Post‑Test Genetic Counseling by Consultant Medical Geneticist.
  • Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.

This definitive molecular diagnostic test sequences the MAT1A gene (NM_000429.3) using next‑generation sequencing on Illumina NovaSeq platform, targeting autosomal recessive methionine adenosyltransferase I/III deficiency. All testing is performed at DNA Labs UAE, a DHA‑licensed facility (License No. 1143) in Dubai Healthcare City. Results include ACMG‑classified variant interpretation and clinical correlation.

Test Overview & Methodology

The MAT1A Genetic Test analyzes the entire coding region and intron‑exon boundaries of the MAT1A gene using next‑generation sequencing (NGS) with a minimum depth of 100×. This comprehensive approach detects single‑nucleotide variants, small insertions/deletions, and splice‑site alterations responsible for autosomal recessive methionine adenosyltransferase deficiency. Early molecular diagnosis allows for targeted dietary methionine restriction and monitoring for neurological complications, hepatic impairment, and psychiatric manifestations.

Feature Our Test (DNA Labs UAE) Closest Alternative
Precision 99.9% analytical sensitivity – full gene NGS Targeted variant panels (limited coverage)
Methodology Next‑Generation Sequencing (NGS), Illumina NovaSeq 6000 Sanger sequencing (single exon focus)
Turnaround Time 3–4 weeks 4–6 weeks
Interpretation Full clinical report with ACMG classification Basic variant list, no clinical correlation

Physician Insight & Safety Protocols

“As a consultant in medical genetics, I emphasize that while the MAT1A NGS test offers high‑confidence molecular confirmation of hypermethioninemia etiology, this result must be integrated with clinical findings, plasma amino acid profiles, and family segregation studies. A definitive genetic diagnosis empowers precision management—dietary intervention, neurological surveillance, and reproductive counselling. Always review results with a board‑certified clinical geneticist before implementing therapeutic changes.”

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

Important Medication & Safety Advisory

Do not discontinue prescribed medications (e.g., methionine‑restricted diet, anticonvulsants) without consulting your doctor. Any dietary or pharmacological adjustment should be guided by a certified metabolic specialist or clinical geneticist based on confirmed genetic findings.

Exclusion Criteria & Emergency Red Flags

  • Patients unable to provide informed consent; minors require legal guardian consent as per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
  • Unsuitable sample: degraded DNA, insufficient volume, or sample not collected in approved EDTA tube or FTA card.
  • Seek immediate medical attention if you experience: sudden confusion, seizures, respiratory distress, loss of consciousness, or severe vomiting after sample collection.

Patient FAQ & Clinical Guidance

1. What is the MAT1A genetic test and who should consider it?

This NGS‑based test identifies pathogenic variants in the MAT1A gene causing autosomal recessive methionine adenosyltransferase deficiency. It is recommended for individuals with persistent hypermethioninemia, unexplained neurological symptoms, liver dysfunction, or a family history of methionine metabolism disorders. A specialist may also order it to confirm a suspected diagnosis before initiating lifelong dietary management.

2. How long do results take, and what does the report include?

Turnaround time is 3 to 4 weeks from sample receipt. The report provides a definitive molecular diagnosis with variant classification per ACMG guidelines, clinical correlation, and recommendations for family screening and management.

3. Is home blood collection available, and is insurance accepted?

Yes, we offer VIP mobile phlebotomy from 8 AM to 11 PM with temperature‑controlled cold chain logistics. Direct billing to most major UAE insurers can be verified via WhatsApp at +971 54 548 8731. Please confirm coverage prior to sample collection.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to the highest standards of patient data protection. All genetic data is processed and stored in compliance 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 testing, consent, and medical liability follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. Patient results are encrypted and accessible only to the ordering physician and the accredited genetics team.

Clinical & Logistical Metadata

Test Name MAT1A Gene Sequencing (Methionine Adenosyltransferase Deficiency, Autosomal Recessive)
Price (AED) 2,800
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral whole blood (EDTA), or buccal swab (FTA card)
Methodology Used Next‑Generation Sequencing (NGS), Illumina NovaSeq 6000, 150 bp paired‑end reads, minimum 100× coverage
ICD-10-CM Code E72.19 (Other disorders of methionine metabolism)
LOINC Code 94673-4 (MAT1A gene analysis)
DHA Facility License & Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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