Test Price
2,800 AED✅ Home Collection Available
GMPPA Gene Alacrima, Achalasia, and Mental Retardation Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
✓ Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance for Result Interpretation.
✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GMPPA Genetic Test comprehensively sequences the entire GMPPA gene using next-generation sequencing, enabling precise diagnosis of the rare Alacrima, Achalasia, and Mental Retardation (AAMR) syndrome. This advanced genetic analysis empowers pediatricians, clinical geneticists, and pediatric gastroenterologists to tailor lifelong management and genetic counselling for affected children and their families.
| Feature | Our Test (GMPPA NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity and specificity; full gene coverage including deep intronic regions | ~95% sensitivity; limited to coding exons; may miss large deletions or duplications |
| Methodology | Next-Generation Sequencing (NGS) with advanced bioinformatics and copy-number analysis | Bi-directional Sanger sequencing of exons only |
| Turnaround Time | 3 to 4 Weeks (guaranteed) | 6 to 8 Weeks (variable) |
Physician Insight & Safety Protocols
"A genetic diagnosis serves as a guiding compass rather than a final verdict. The GMPPA test clarifies the clinical pathway for targeted surveillance and multidisciplinary support, yet each patient's unique presentation must direct therapeutic decisions. Families should always consult their managing physician before making any changes to care plans."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed medication without direct consultation with your treating physician. This genetic test is a diagnostic adjunct and does not replace ongoing clinical management or emergency care.
Safety and Exclusion Criteria
- Exclusion: Infants under 3 months for capillary collection; individuals with active systemic infection requiring immediate acute care.
- Pre-Test Requirement: Genetic counselling session and signed informed consent from legal guardian (mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability for minors).
- Emergency Red Flags: If the patient experiences severe dehydration, aspiration pneumonia, or respiratory distress, seek emergency medical attention immediately — do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does the GMPPA Genetic Test detect?
NGS-based GMPPA gene testing detects pathogenic variants linked to alacrima, achalasia, and intellectual disability syndrome. It reads every coding and splice-region nucleotide, identifying missense, nonsense, small indels, and copy-number changes that cause AAMR syndrome, providing a definitive molecular diagnosis when clinical features suggest this condition.
2. How is sample collection performed?
Sample collection requires a single blood draw, extracted DNA, or one drop of blood on an FTA card. Our VIP mobile phlebotomy team arrives at your home between 8 AM and 11 PM, uses a hospital-grade cold chain, and ensures the specimen reaches our ISO-certified lab within 4 hours, preserving DNA integrity for highest accuracy.
3. What does a positive result mean?
A positive result confirms a disease-causing mutation in the GMPPA gene, establishing the diagnosis of alacrima, achalasia, and mental retardation syndrome. This enables personalized surveillance for achalasia complications, tear substitutes for alacrima, and early intervention programs for developmental support, while guiding family genetic counselling.
4. Who should consider this genetic test?
This test is indicated for children presenting with unexplained alacrima (absence of tears), dysphagia or feeding difficulties suggestive of achalasia, and developmental delay or intellectual disability. It is also recommended for families with a known history of AAMR syndrome and for couples seeking carrier screening when consanguinity is present.
5. How long does it take to get results?
The guaranteed turnaround time is 3 to 4 weeks from sample receipt at our laboratory. This timeframe accounts for DNA extraction, library preparation, sequencing run, bioinformatic analysis, and clinical variant interpretation by our genetics team.
UAE Regulatory & Data Privacy Adherence
All genetic testing procedures at DNA Labs UAE fully comply with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing and storage of genomic and health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields ensuring secure digital handling of medical records and test results.
- Federal Decree-Law No. 4 of 2016 on Medical Liability establishing patient consent and clinical safety standards for diagnostic procedures.
ISO 9001:2015 Certified — Cert: INT/EGQ/2509DA/3139. DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | GMPPA Gene Alacrima, Achalasia, and Mental Retardation Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (guaranteed from sample receipt) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card). VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage, including intronic regions and copy-number variant analysis. |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 82498-5 (Genetic analysis of a single gene) |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians