Test Price
2,800 AEDโ Home Collection Available
PGAP1 Gene Autosomal Recessive Intellectual Disability Type 42 (MRT42) Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Executive Summary
The PGAP1 Gene NGS Test is a single-gene sequencing analysis designed to detect pathogenic variants in the PGAP1 gene responsible for autosomal recessive intellectual disability type 42 (MRT42), a rare neurological disorder characterized by developmental delay and cognitive impairment.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing with LC-MS/MS Confirmatory Validation.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain Transport and VIP Mobile Phlebotomy Service (8 AM โ 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for Result Interpretation by DHA-Certified Specialists.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PGAP1 Gene NGS Test is a high-precision diagnostic analysis using next-generation sequencing (NGS) technology to identify pathogenic variants in the PGAP1 gene. This method provides comprehensive coverage of exonic regions, intron-exon boundaries, and regulatory elements, ensuring accurate detection of mutations underlying autosomal recessive intellectual disability type 42.
| Feature | Our Test โ NGS Technology | Closest Alternative โ Sanger Sequencing |
|---|---|---|
| Precision | >99.9% Single-Nucleotide Variant Detection | ~95% Per Amplicon Sensitivity |
| Methodology | NGS with LC-MS/MS Confirmatory Analysis | Chain-Termination Dideoxynucleotide Sequencing |
| Speed | 3 to 4 Weeks | 4 to 6 Weeks |
| Variant Coverage | Full Gene โ Exons, Intron-Exon Boundaries, Regulatory Regions | Targeted Exon-by-Exon Only |
| UAE DHA Compliance | Fully Compliant โ Federal Decree-Law No. 45 of 2021 and Federal Law No. 2 of 2019 | Variable by Provider |
Physician Insight & Safety Protocols
"Genetic testing for rare neurodevelopmental conditions such as MRT42 is a profound step for any family. I encourage all patients and their caregivers to view these results as part of a broader clinical pictureโone that must be interpreted alongside neurological evaluation and developmental history. My team and I are committed to guiding you through every stage of this diagnostic journey with empathy, precision, and the highest standards of UAE healthcare."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Medication Guidelines
Medication Warning
Do not discontinue any prescribed medication or alter your treatment regimen based on genetic test results without consulting your treating physician. Genetic findings inform long-term clinical management and must be integrated cautiously with your current therapeutic plan.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active febrile infection at the time of blood draw; untreated coagulopathy or current high-dose anticoagulant therapy (relative contraindication โ consult our phlebotomy team); inability to provide informed consent from the patient or legal guardian as per Federal Decree-Law No. 4 of 2016 on Medical Liability; incomplete pre-test genetic counseling session.
- ER Red Flags: Sudden onset of seizures, loss of developmental milestones, or acute neurological regression following blood draw โ seek immediate emergency medical attention. While phlebotomy is low-risk, any signs of hematoma expansion, persistent bleeding, or syncope warrant urgent evaluation.
- Psychosocial Alert: Unexpected or uncertain genetic findings may cause significant psychological distress. Our post-test telephonic clinical guidance is available to support you. If you experience overwhelming anxiety or depressive symptoms, please contact our team or visit your nearest DHA-licensed emergency department.
Patient FAQ & Clinical Guidance
1. What is the PGAP1 gene and why is this test ordered for my child or family member?
The PGAP1 gene encodes a protein essential for glycosylphosphatidylinositol (GPI) anchor remodeling, and pathogenic variants in this gene cause autosomal recessive intellectual disability type 42 โ a rare neurodevelopmental condition marked by global developmental delay, hypotonia, and cognitive impairment inherited when both parents carry a mutated copy. This NGS test is ordered to confirm a clinical diagnosis, guide early intervention therapies, inform family planning decisions, and provide a definitive molecular etiology when clinical features overlap with other neurological disorders.
2. How should I prepare for the blood draw and is genetic counseling mandatory before the test?
A pre-test genetic counseling session is mandatory under UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection to draw a comprehensive pedigree chart of affected family members, discuss the implications of autosomal recessive inheritance, and obtain fully informed consent before any sample collection proceeds. Fasting is not required for this blood draw; however, please inform our phlebotomist of all current medications and supplements โ particularly anticoagulants, antiplatelet agents, and high-dose omega-3 fatty acids โ during the pre-collection screening.
3. What do my results mean and what happens if a variant of uncertain significance (VUS) is reported?
Your results will classify detected PGAP1 variants into one of five categories โ pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign โ and a VUS result means that current scientific evidence is insufficient to determine whether the genetic change causes disease, requiring periodic reanalysis as new clinical data emerge. Our DHA-certified team provides a complimentary telephonic post-test guidance session to explain every finding in plain language, coordinate follow-up with your neurologist or clinical geneticist, and schedule reclassification reviews at 12-month intervals in accordance with ACMG/AMP standards.
UAE Regulatory & Data Privacy Adherence
Privacy & Security Compliance
This testing service operates in full 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. All genetic data is stored, processed, and transmitted in accordance with UAE data sovereignty requirements. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) and methodology validated against rigorous international standards.
Clinical & Logistical Metadata
| Test Name | PGAP1 Gene Autosomal Recessive Intellectual Disability Type 42 (MRT42) Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) with LC-MS/MS Confirmatory Validation |
| ICD-10-CM Code | F78, Z15.89, Z13.8 |
| LOINC Code | 81247-7 |
| DHA Facility License & Laboratory Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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