Test Price
2,800 AED✅ Home Collection Available
Enterokinase Deficiency (TMPRSS15 Gene) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Comprehensive genetic screening for congenital enterokinase deficiency caused by pathogenic variants in the TMPRSS15 gene, fully compliant with UAE federal health data regulations.
- 99.9% Diagnostic Sensitivity via ISO 15189:2022 accredited, high-coverage NGS platform with full CNV analysis.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – DHA-registered phlebotomist available daily from 8 AM to 11 PM across all UAE emirates.
- Post-Test Clinical Guidance – Complimentary tele-consultation with a licensed genetic counselor for comprehensive report interpretation.
- Insurance Billing – Direct verification via WhatsApp +971 54 548 8731.
- DHA Licensed Facility – Operated under DHA Facility License Number 1143 at Dubai Healthcare City.
Test Overview & Methodology
This test analyses the entire coding sequence of the TMPRSS15 gene using Next-Generation Sequencing (NGS) to identify pathogenic variants causing congenital enterokinase (enteropeptidase) deficiency — a rare autosomal recessive disorder characterized by severe protein malabsorption, hypoproteinaemic oedema, and failure to thrive from infancy. The NGS methodology achieves high-coverage sequencing at ≥100× depth across all exons and intron-exon boundaries, aligned to the GRCh38 human reference genome. Bioinformatic analysis includes single nucleotide variant (SNV) detection, small insertion/deletion (indel) identification, and copy number variant (CNV) assessment to ensure comprehensive molecular diagnosis.
| Feature | DNA Labs UAE NGS Test (ISO-Certified) | Standard Targeted Panel |
|---|---|---|
| Precision (Analytical) | 99.9% sensitivity, full gene sequencing + CNV analysis | ~95% sensitivity, hotspot regions only |
| Methodology | High-coverage NGS (≥100×) on Illumina platform, GRCh38 alignment | Limited Sanger or low-coverage NGS |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Genetic Counseling | Pre-test pedigree assessment & post-test telehealth consultation included | Often not provided |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh
Consultant Medical Genetics | DHA Registration ID: 9294403
“Congenital enterokinase deficiency is a diagnostically challenging condition where prompt molecular confirmation can dramatically alter clinical outcomes. Identifying biallelic TMPRSS15 variants enables targeted pancreatic enzyme replacement therapy and prevents long-term growth complications. This test provides definitive molecular evidence, but results must always be contextualized alongside serum albumin, fecal elastase, and clinical presentation. Early diagnosis in infancy remains the cornerstone of effective management, and our integrated genetic counseling pathway ensures families fully understand the implications for both the affected child and future reproductive planning.”
Medication Safety Advisory
Do not discontinue prescribed pancreatic enzyme replacement therapy (e.g., pancrelipase), specialized high-protein nutritional formulas, or anti-oedema medications without explicit guidance from your supervising gastroenterologist or metabolic specialist. Abrupt cessation can precipitate severe protein malnutrition, metabolic decompensation, or life-threatening oedema. This genetic test is a diagnostic aid and does not replace ongoing clinical monitoring or medication management.
Exclusion Criteria & Emergency Red Flags
- This test is not validated for routine adult screening in the absence of pediatric-onset symptoms, documented growth failure, or a confirmed familial pathogenic variant.
- Genetic testing of asymptomatic minors requires court-approved consent in accordance with UAE federal legislation on pediatric genomic analysis.
- Seek immediate emergency care if the patient exhibits severe dehydration, intractable vomiting, marked abdominal distension, or rapid onset of peripheral oedema with respiratory difficulty.
Patient FAQ & Clinical Guidance
1. What is enterokinase deficiency and how does the TMPRSS15 gene cause it?
Enterokinase deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the TMPRSS15 gene, which encodes the enteropeptidase enzyme essential for activating pancreatic trypsinogen. Without functional enteropeptidase, dietary proteins cannot be properly digested, leading to severe malabsorption, hypoproteinaemia, generalized oedema, and failure to thrive. Symptoms typically manifest shortly after birth when milk or formula protein cannot be metabolized. The NGS test sequences all coding exons and regulatory regions to detect disease-causing point mutations, frameshift variants, splice-site alterations, and copy number deletions.
2. Is home sample collection available for this genetic test across the UAE?
Yes, DNA Labs UAE provides DHA-licensed VIP Mobile Phlebotomy using validated temperature-controlled cold-chain logistics across Dubai, Abu Dhabi, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah. A trained phlebotomist will collect either a peripheral blood sample (2–5 mL in EDTA) or a buccal swab for infants within 24 hours of booking. The specimen is transported under strict chain of custody directly to our ISO 15189:2022 accredited laboratory in Dubai Healthcare City. Service is available daily from 8 AM to 11 PM, including weekends and public holidays.
3. How will I receive my results and what do they include?
Results are delivered via a secure encrypted PDF report within 3–4 weeks from sample receipt. The report details all detected variants with ACMG/AMP classification (pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign), zygosity status, in silico pathogenicity predictions, population frequency data from gnomAD, and clinical correlation with enterokinase deficiency phenotypes. Management recommendations include dietary modifications, pancreatic enzyme dosing guidance, and surveillance protocols. A complementary telehealth session with our Consultant Medical Genetics is included to review findings, discuss recurrence risks, and coordinate care with your primary gastroenterologist. Raw sequencing data (BAM and VCF files) is available upon formal request.
4. What are the implications for family members and future pregnancies?
As an autosomal recessive condition, each full sibling of an affected child has a 25% chance of inheriting both pathogenic alleles, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and non-carrier. Carrier testing for parents and at-risk relatives is available through targeted variant analysis once the proband's mutations are identified. Prenatal diagnosis and preimplantation genetic testing (PGT-M) can be arranged through our genetic counseling service for families planning future pregnancies. All reproductive genetic testing complies with UAE Fatwa and ethical guidelines.
5. How is this test different from newborn screening panels?
Newborn screening programs in the UAE typically test for a limited set of metabolic disorders using tandem mass spectrometry, which does not cover enterokinase deficiency. This dedicated NGS-based diagnostic test provides comprehensive analysis of the TMPRSS15 gene at single-base resolution with CNV detection, offering definitive molecular confirmation that screening panels cannot achieve. It is clinically indicated for infants or children presenting with unexplained hypoproteinaemia, oedema, and growth faltering in whom standard metabolic workup has been inconclusive.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- ✅ Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – All patient-identifiable genetic data is encrypted end-to-end and stored exclusively on UAE-based servers. Explicit written consent is obtained prior to any genomic analysis, with clear disclosure of data processing, storage duration, and sharing boundaries.
- ✅ Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Electronic health records, sequencing data files, and diagnostic reports are managed within a secure health information system compliant with UAE telehealth and digital health regulations.
- ✅ Federal Decree-Law No. 4 of 2016 on Medical Liability – Clinical testing and patient consent protocols adhere to federal medical liability standards. Pre-test genetic counseling, post-test result disclosure, and clinical recommendations follow established duty-of-care obligations.
- ✅ ISO 15189:2022 Accredited Laboratory – Our laboratory holds full accreditation for medical laboratory quality and competence, ensuring procedural integrity, traceability, and international benchmarking.
- ✅ DHA Facility License Number 1143 – Operated under Dubai Health Authority regulatory oversight at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- ✅ Contact & Support WhatsApp: +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | Enterokinase Deficiency (TMPRSS15 Gene) Genetic Test – Full Gene Sequencing with CNV Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (2–5 mL in EDTA) or buccal swab (infants); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | High-coverage Next-Generation Sequencing (≥100× depth) on Illumina platform with GRCh38 alignment, SNV/indel detection, and CNV bioinformatic analysis |
| ICD-10-CM Code | E88.89 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA License Number 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians