Test Price
2,800 AED✅ Home Collection Available
PTF1A Gene Sequencing for Pancreatic & Cerebellar Agenesis | DNA Labs UAE | 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Next Generation Sequencing (NGS) under the direct supervision of our Consultant Medical Genetics, Lina Osama Zaki Quteineh (DHA 9294403).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all UAE emirates, operating daily from 8 AM to 11 PM.
- Clinical Guidance: Comprehensive post-test telephonic interpretation and genetic counselling provided directly by the reviewing DHA-licensed specialist.
- Insurance & Billing: Direct billing verification and insurance support handled seamlessly via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This targeted NGS-based assay sequences the complete PTF1A gene, including deep intronic and regulatory regions, to detect pathogenic variants responsible for pancreatic and cerebellar agenesis. This rare autosomal recessive condition is characterized by the congenital absence of the pancreas and cerebellum, typically presenting with neonatal diabetes mellitus and profound neurodevelopmental delay. Early molecular confirmation is critical for initiating life-saving pancreatic enzyme replacement therapy and comprehensive neurological support.
Diagnostic Comparison: Targeted PTF1A Sequencing vs. Whole Exome Sequencing
| Feature | DNA Labs UAE – Targeted PTF1A NGS | Alternative: Whole Exome Sequencing (WES) |
|---|---|---|
| Methodology & Coverage | Targeted NGS with full-gene coverage, including deep intronic, promoter, and regulatory elements for maximum diagnostic yield. | Captures coding regions (exons) of all genes; often limited coverage of non-coding or regulatory PTF1A variants. |
| Turnaround Time | Optimized to 21–28 Days (3–4 Weeks) for clinical decision-making. | Typically 6–8 Weeks due to broader data analysis requirements. |
| Diagnostic Precision | 99.9% sensitivity and specificity for PTF1A pathogenic variants; significantly reduced rate of Variants of Uncertain Significance (VUS). | High VUS rate due to interrogation of thousands of genes, often requiring extensive secondary interpretation. |
| Price (All-Inclusive) | 2,800 AED | 4,000+ AED |
Physician Insight & Safety Protocols
“From a clinical genetics perspective, a definitive molecular diagnosis of PTF1A-related pancreatic and cerebellar agenesis provides essential clarity amid a complex neonatal presentation. This enables the immediate deployment of targeted interventions, including pancreatic enzyme replacement, insulin therapy, and structured neurodevelopmental surveillance. I strongly recommend that all genetic findings be meticulously correlated with clinical, biochemical, and neuroimaging data, and that families receive comprehensive, non-directive genetic counselling. Our service ensures that every result is reviewed and communicated by a board-certified medical geneticist.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Advisory: Ongoing Medical Management
⚠ Do not discontinue, modify, or initiate any prescribed medication, including insulin or pancreatic enzymes, without direct consultation with your managing physician. This molecular diagnostic test is an adjunct to, and not a replacement for, ongoing therapeutic management and emergency clinical care.
Exclusion Criteria & Emergency Red Flags
- Specimen Exclusion Criteria: Samples rejected due to improper collection, insufficient DNA yield, hemolysis, or failure to maintain cold-chain integrity (2–8°C) within 24 hours. A repeat collection will be coordinated by our logistics team at no additional cost for valid clinical reasons.
- Clinical Emergency Red Flags: If the patient experiences severe hypoglycemia with loss of consciousness, refractory seizures, respiratory distress, or acute abdominal symptoms, seek immediate emergency medical care. A genetic test result, whether positive or negative, is not a substitute for urgent clinical assessment and intervention.
Patient FAQ & Clinical Guidance
1. What is the PTF1A gene test used for?
This test is used to provide a definitive molecular diagnosis of pancreatic and cerebellar agenesis by detecting disease-causing mutations in the PTF1A gene with greater than 99.9% sensitivity. A positive result confirms the genetic etiology, enabling the initiation of targeted therapies and family counselling.
2. How should I prepare for the test?
Preparation requires a dedicated pre-test genetic counselling session where a detailed three-generation pedigree is documented. The sample collection itself is straightforward, requiring either a standard peripheral whole blood sample (EDTA tube), an extracted DNA aliquot, or a dried blood spot (DBS) card. Our mobile phlebotomist will manage all collection logistics at your preferred location.
3. How soon can I expect results, and what happens next?
The technical turnaround time is 21 to 28 days from sample receipt in the laboratory. Once completed, a comprehensive molecular report is issued, followed by a mandatory telephonic clinical guidance session conducted directly by Lina Osama Zaki Quteineh, our Consultant Medical Genetics, to explain the implications of the result and coordinate the next steps in management.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights: Strict Compliance Framework
- Personal Data Protection: All patient data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: We adhere strictly to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring the highest standards of digital health security.
- Clinical & Medical Liability: All clinical testing, patient consent, and safety protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Quality Certification: Our laboratory operations are ISO 9001:2015 certified (Certificate No. INT/EGQ/2509DA/3139), ensuring rigorous quality management and traceability.
Clinical & Logistical Metadata
| Test Name | PTF1A Gene Sequencing (Pancreatic & Cerebellar Agenesis) |
| Price (AED) | 2,800 AED (All-Inclusive) |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (DBS) |
| Methodology Used | Targeted Next Generation Sequencing (NGS) with Full Gene Coverage |
| ICD-10-CM Code | Q45.0, Q04.8 |
| LOINC Code | 94230-1 |
| DHA License & Address | DHA Facility License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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