Test Price
2,800 AED✅ Home Collection Available
GAMT Gene (Guanidinoacetate Methyltransferase Deficiency) Next‑Generation Sequencing Genetic Test in UAE – 2800 AED – DHA Licensed Facility
Executive Summary & Core Metrics
Clinical Trust & Precision Diagnostics
- 99.9% Diagnostic Sensitivity – Whole blood or extracted DNA analysed by Next‑Generation Sequencing (NGS) in an ISO 9001:2015 accredited laboratory.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM with an additional service fee.
- Post‑Test Medical Guidance – Telephone consultation with a specialist to correlate results with family history and clinical presentation.
- Direct Insurance Verification – Contact us on WhatsApp +971 54 548 8731 to confirm coverage and issue direct billing invoices.
Test Overview & Methodology
This NGS‑based test screens the entire coding region and exon‑intron boundaries of the GAMT gene, detecting single nucleotide variants, small indels, and copy number changes linked to guanidinoacetate methyltransferase deficiency (cerebral creatine deficiency syndrome type 2). It is used to confirm diagnosis in patients presenting with motor delay, seizures, or autism spectrum disorder suspected of brain creatine deficiency.
| Feature | Our Test – GAMT NGS | Closest Alternative – Targeted Sanger Sequencing |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) with full gene coverage | Sanger sequencing of selected exons only |
| Precision | >99.9% analytical sensitivity for SNVs & CNVs | High for targeted region, but misses novel or deep intronic variants |
| Turnaround Time | 3–4 weeks | 2–3 weeks |
| Clinical Applicability | Definitive diagnosis, carrier testing, family screening | Limited to known familial mutations |
Physician Insight & Safety Protocols
"A negative NGS result does not exclude all metabolic disorders; clinical correlation with plasma guanidinoacetate and creatine levels remains imperative. I always interpret this test alongside a detailed three‑generation pedigree and neurometabolic evaluation. For uncertain variants, family segregation studies may be required."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue any prescribed medication or dietary supplement without explicit direction from your treating physician. Creatine or metabolic interventions must be supervised by a specialist experienced in inherited metabolic disorders.
Safety Exclusion & Emergency Red Flags
- Exclusion criteria: Inability to provide informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability; uncontrolled acute illness requiring hospitalisation; minors without legal guardian consent as per Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- ER Red Flags: If the individual experiences acute lethargy, vomiting, seizures, or loss of consciousness, proceed immediately to the nearest emergency department – do not delay for genetic testing.
Patient FAQ & Clinical Guidance
1. What does a positive GAMT NGS result mean for my child?
A positive result indicates two pathogenic variants in the GAMT gene, confirming guanidinoacetate methyltransferase deficiency, a treatable creatine synthesis disorder requiring immediate metabolic specialist intervention.
2. Can this test be used for carrier screening in healthy adults?
Yes, the NGS reliably identifies heterozygous carriers, enabling informed reproductive choices and cascade family screening under genetic counselling guidance.
3. What sample is required and how is the home collection arranged?
A single 3–4 mL whole blood in EDTA tube or a dry blood spot on FTA card is sufficient; our VIP mobile phlebotomy team arrives with cold‑chain transport after booking via WhatsApp.
UAE Regulatory & Data Privacy Adherence
Legal & Compliance Framework
This test is performed under the oversight of the Dubai Health Authority (DHA Facility License No. 1143). All genetic data handling 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. Patient consent and safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic counselling is provided by DHA‑licensed professionals.
Clinical & Logistical Metadata
| Test Name | GAMT Gene (Guanidinoacetate Methyltransferase Deficiency) Next‑Generation Sequencing Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA) or dried blood spot (FTA card) |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina® platform; average coverage >100×; variant interpretation per ACMG/AMP guidelines |
| ICD-10-CM Code | E72.89, Z13.71, Z31.5 |
| LOINC Code | 84591-3 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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