Test Price
2,800 AED✅ Home Collection Available
PTF1A Gene Pancreatic Agenesis Type 2 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Certificate INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PTF1A NGS test screens the entire coding region of the PTF1A gene to confirm or rule out pancreatic agenesis type 2, a rare autosomal recessive disorder that can present with neonatal diabetes and exocrine insufficiency. The assay employs Next Generation Sequencing on the Illumina platform with a mean depth of 100×, ensuring comprehensive variant detection including single nucleotide variants, insertions, deletions, and copy number variants.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, detects all variant types (SNVs, indels, CNVs) | Limited to targeted known mutations; may miss novel variants |
| Method | Next Generation Sequencing (Illumina® platform, 100× mean depth) | Capillary electrophoresis Sanger |
| Turnaround | 3–4 Weeks | 2–4 Weeks (often partial) |
| Sample | Whole Blood, Extracted DNA, or Dried Blood Spot on FTA Card | Whole Blood only |
Physician Insight & Safety Protocols
“A positive result requires careful clinical correlation – not all mutations are fully penetrant, and management must be guided by a multi‑disciplinary team including a gastroenterologist, endocrinologist, and clinical geneticist. For families, a negative result offers tremendous reassurance, but genetic counselling remains essential to discuss residual risks.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, adjust, or modify any prescribed medication or insulin regimen before this test without explicit approval from your treating physician. The test does not replace acute clinical assessment.
Safety Exclusion Criteria & Emergency Red Flags
- Active febrile illness or acute pancreatitis – postpone collection.
- Severe anemia (Hb < 7 g/dL) – requires physician clearance for venipuncture.
- Children < 1 year: collection only by paediatric phlebotomist; dried blood spot strongly recommended.
- ER Red Flags: If the patient develops severe epigastric pain, intractable vomiting, hyperglycemic crisis (blood glucose > 300 mg/dL), or signs of shock, seek emergency care immediately; do not wait for test results.
Patient FAQ & Clinical Guidance
1. How accurate is this PTF1A gene test for confirming pancreatic agenesis type 2?
The Next Generation Sequencing assay achieves 99.9% diagnostic sensitivity by interrogating all coding exons and splice junctions with ≥100× read depth, virtually eliminating false-negative calls. All variants are classified according to ACMG/AMP guidelines, and any variant of uncertain significance is reported with a clear clinical interpretation note.
2. Can I use a dried blood spot (FTA card) instead of a blood draw, and is it equally reliable?
A single drop of blood on an FTA card provides sufficient DNA for high-quality NGS when collected correctly, making the test accessible even for neonates and patients with difficult venous access. The laboratory validates every FTA card sample for DNA integrity before processing; if quality is insufficient, a recollection request is issued at no extra consultation charge.
3. How do I prepare for the test and what documentation is required?
A mandatory pre-test genetic counselling session is included to draw a detailed family pedigree and obtain informed consent, ensuring complete clinical context for accurate variant interpretation. Please bring all previous medical reports, a list of current medications, and the referring physician’s contact details. No fasting or medication adjustments are required unless specifically advised by your physician.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed under DHA‑licensed facility No. 1143 and strictly adheres to the following UAE legal frameworks:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – all patient identifiers are pseudonymised; results are shared only with the authorised requesting physician via secure DHA‑compliant portals.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and telemedicine components of the service.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring that informed consent, pre‑test counselling, and clinical safety protocols meet the highest standards of care.
Quality management is certified under ISO 9001:2015 (Certificate INT/EGQ/2509DA/3139). In-home collection is performed by DHA‑licensed phlebotomists using cold‑chain protocols validated by the Emirates International Accreditation Centre (EIAC).
Support & Appointments: +971 54 548 8731 | WhatsApp: +971 54 548 8731 (8 AM – 11 PM, 7 days a week).
Clinical & Logistical Metadata
| Test Name | PTF1A Gene Pancreatic Agenesis Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card); VIP Home Collection Available |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina® platform, ≥100× mean depth |
| ICD-10-CM Code | Q45.0 (Congenital absence, agenesis, aplasia of pancreas) |
| LOINC Code | 94471-7 (Gene mutation analysis for inherited genetic disorder) |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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