Test Price
2,800 AED✅ Home Collection Available
Enterokinase Deficiency (TMPRSS15 Gene) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل طفرة الجين TMPRSS15 لنقص الإنتيروكيناز في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: فحص جيني شامل لنقص إنزيم الإنتيروكيناز الناجم عن طفرات في جين TMPRSS15، مع ضمان الامتثال لقوانين دولة الإمارات العربية المتحدة.
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited, high-coverage NGS with CNV analysis.
- Premium Home Collection – DHA-registered mobile phlebotomist, cold-chain blood/DNA transport (8 AM–11 PM).
- Post-Test Clinical Guidance – Complimentary tele-consult with a genetic counselor for report interpretation.
- Insurance Billing – Direct verification via WhatsApp +971 54 548 8731.
Test Overview & Clinical Utility
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. يُجري هذا الاختبار تسلسلاً كاملاً لجين TMPRSS15 لتشخيص نقص الإنتيروكيناز الخلقي بدقة عالية.
| Feature | Our NGS Test (ISO‑Certified) | Standard Targeted Panel |
|---|---|---|
| Precision (Analytical) | 99.9% sensitivity, full gene + 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 chart & post‑test telehealth included | Often not provided |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011 – Senior Medical Geneticist)
“Every parent’s worry is their child’s health, and persistent diarrhoea with swelling demands answers. This test provides a molecular diagnosis, but it must be interpreted alongside clinical symptoms and serum albumin levels. Even if a pathogenic variant is found, treatment with pancreatic enzyme replacement therapy often transforms outcomes.”
⚕️ Medication Safety Alert
Do not discontinue prescribed enzyme replacement (e.g., pancrelipase), nutritional formulas, or anti‑oedema medications without consulting your supervising physician. Abrupt changes can trigger severe malnutrition or decompensation.
Exclusion Criteria & Emergency Red Flags
- This test is not validated for routine adult screening without pediatric‑onset symptoms or a confirmed family mutation.
- Testing of asymptomatic minors requires a court‑approved consent per UAE CDS Law 2026.
- Seek immediate emergency care if you note severe dehydration, intractable vomiting, or marked abdominal distension.
Frequently Asked Questions (Bilingual)
1. What is enterokinase deficiency and how does the TMPRSS15 gene cause it?
Enterokinase deficiency is a rare genetic disorder caused by biallelic mutations in the TMPRSS15 gene, resulting in absent or defective enteropeptidase that fails to activate pancreatic proteases. This leads to severe protein maldigestion, hypoproteinaemia, and growth failure. Symptoms typically appear soon after birth when breast milk or formula protein cannot be broken down. The NGS test sequences all exons of the gene to detect point mutations, deletions, and copy number variants.
ما هو نقص الإنتيروكيناز وكيف يتسبب جين TMPRSS15 في ذلك؟
نقص الإنتيروكيناز هو اضطراب وراثي نادر ينجم عن طفرات في جين TMPRSS15 تؤدي إلى غياب إنزيم الإنتيروببتيداز النشط، مما يمنع تنشيط الأنزيمات الهاضمة للبروتين. يسبب ذلك سوء هضم شديد، نقص بروتينات الدم، وتأخر النمو. يكشف اختبار التسلسل الجيني الكامل للجين بدقة عن الطفرات المسببة.
2. Is home sample collection available for this genetic test across the UAE?
Yes, we provide DHA‑licensed home blood collection using a cold‑chain validated process anywhere in Dubai, Abu Dhabi, and the Northern Emirates within 24‑hours of booking. A trained phlebotomist will collect a small volume of blood (or buccal swab for infants) in a sterile, temperature‑controlled kit. The sample is transported directly to our ISO‑accredited lab, maintaining chain of custody. Service is available from 8 AM to 11 PM daily, including weekends.
هل تتوفر خدمة سحب العينة من المنزل لهذا الفحص الجيني في الإمارات؟
نعم، نوفر خدمة سحب دم منزلية مُرخصة من هيئة الصحة بدبي باستخدام نظام نقل مبرد معتمد، في دبي وأبوظبي والإمارات الشمالية. يقوم فني مختص بجمع العينة خلال 24 ساعة من الحجز ويتم نقلها مباشرة إلى مختبرنا المعتمد بمعايير الآيزو.
3. How will I receive my results and what do they include?
You will receive a detailed PDF report via secure email within 3–4 weeks, listing all detected variants with ACMG classification, clinical correlation, and personalised management recommendations. The report includes information on pathogenicity, zygosity, and implications for future pregnancies. A free tele‑counseling session with a genetic counselor is included to explain the findings and next steps. Raw sequencing data (BAM/VCF) is available upon request for research use.
كيف سأستلم نتائج الاختبار؟
سوف تتلقى تقريراً شاملاً بصيغة PDF عبر بريد إلكتروني آمن خلال 3 إلى 4 أسابيع، يتضمن جميع المتغيرات الجينية المكتشفة مع تصنيفها السريري وتوصيات المتابعة. جلسة استشارة وراثية هاتفية مجانية مضمنة لشرح النتائج.
Regulatory & Accreditation Compliance
- ✅ Federal Decree‑Law No. 41 of 2024 (Art. 87) – Mandatory pre‑ genetic counseling and explicit consent for genetic analysis.
- ✅ CDS Law 2026 (Minors’ Genetic Data) – Court‑approved consent for testing minors, strict data anonymisation.
- ✅ UAE PDPL 2026 – All patient data stored and processed on UAE‑based servers with end‑to‑end encryption.
- ✅ ISO 9001:2015 Certified Laboratory (Cert: INT/EGQ/2509DA/3139) – Ensuring procedural quality and traceability.
- ✅ DHA Facility License: 9834453
- ✅ Contact & Support WhatsApp: +971 54 548 8731
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