Test Price
2,800 AED✅ Home Collection Available
INVS Gene Nephronophthisis Type 2 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين INVS لالتهاب الكلية الوراثي من النوع الثاني في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ملخص تنفيذي: فحص جيني متطور لجين INVS بموجب معايير DHA 2026، يستخدم تقنية التسلسل الجيني (NGS) بدقة تشخيصية 99.9% وفق معيار ISO 9001:2015. يتضمن استشارة وراثية وجمع عينات منزلية بتقنية التبريد، مع دعم سريري وإمكانية التحقق من التأمين عبر واتساب.
- ✓ 99.9% Diagnostic Sensitivity – ISO‑accredited NGS with full exon coverage and confirmatory Sanger sequencing.
- ✓ Premium Home Collection – Hospital‑grade phlebotomy, ISO‑certified cold‑chain transport, nationwide 8 AM – 11 PM.
- ✓ Post‑Test Clinical Guidance – Board‑certified genetic counsellor telephonic session at no extra cost.
- ✓ Direct Insurance Verification – WhatsApp +971 54 548 8731 prior to collection.
Test Overview
The INVS gene nephronophthisis type 2 test is a definitive molecular assay that identifies pathogenic or likely pathogenic variants in the INVS gene, the sole cause of nephronophthisis type 2 (NPHP2) – an autosomal recessive ciliopathy characterized by medullary cystic kidney disease and progression to end‑stage renal disease (ESRD) often in childhood. Early diagnosis through this NGS test enables precision family planning, proactive nephrological surveillance, and timely renal‑replacement preparation. يكشف الاختبار الطفرات الوراثية في جين INVS المسؤولة عن التهاب الكلية الوراثي النوع الثاني، مما يدعم التشخيص المبكر ويمكّن من التخطيط الأسري الدقيق.
| Feature | Our INVS NGS Test (AED 2800) | Classic Sanger Sequencing (Alternative) |
|---|---|---|
| Method | High‑depth NGS + confirmatory Sanger | Single‑exon Sanger only |
| Coverage | All coding exons, ±10 bp intron boundaries | Sequential exon sequencing (higher risk of missing deep intronic variants) |
| Detection Power | CNV, indels, splice‑site, and point mutations | Point mutations and small indels only; low CNV sensitivity |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Clinical Reporting | ACMG/AMP 2026 interpretation with carrier status | Limited to variant description only |
Compared to whole‑exome sequencing, our dedicated INVS gene panel offers deeper coverage, lower incidental finding burden, and a TAT optimized for renal genetic conditions.
Physician Insight – Dr. PRABHAKAR REDDY (DHA: 61713011)
“A molecular diagnosis of nephronophthisis type 2 paves the way for proactive renal care, but it is never a standalone verdict. Clinical correlation with renal ultrasound, kidney function tests, and ophthalmologic evaluation (for Senior‑Løken syndrome) remains essential. Every family should receive comprehensive genetic counselling before acting on the result.”
⚠️ Medication Warning: Do not discontinue or alter any prescribed medication, including antihypertensives or immunosuppressants, without consulting your treating physician. Laboratory results must always be interpreted in the context of your full clinical picture.
Safety & Exclusion Criteria
- Exclusion Criteria: Individuals unable to provide informed consent or lacking a legal guardian (for minors). Acute febrile illness may postpone collection at phlebotomist’s discretion. Pregnancy is not a contraindication but requires mandatory pre‑test genetic counselling.
- Emergency Red Flags: If the patient experiences sudden vision loss (retinitis pigmentosa indicative of Senior‑Løken syndrome), severe electrolyte imbalance (hyponatremia/hyperkalemia), or brisk decline in urine output, seek immediate emergency care at the nearest hospital. These symptoms may indicate advanced ciliopathy complications unrelated to the testing procedure itself.
Frequently Asked Questions
Q1: What does the INVS gene test specifically detect?
A: The INVS gene test detects pathogenic or likely pathogenic variants in the INVS gene that cause nephronophthisis type 2, a hereditary cystic kidney disease leading to end‑stage renal disease often by adolescence.
ج: يكشف اختبار جين INVS عن الطفرات المرضية أو المحتملة المرضية في هذا الجين، والتي تسبب التهاب الكلية الوراثي من النوع الثاني، وهو مرض كيسي كلوي وراثي يؤدي غالباً إلى الفشل الكلوي النهائي في مرحلة المراهقة.
Q2: How reliable is this genetic test?
A: Our NGS‑based assay achieves 99.9% analytical sensitivity for single nucleotide variants and indels, with full exon coverage confirmed by orthogonal Sanger sequencing for every pathogenic finding.
ج: يتمتع فحصنا القائم على تقنية التسلسل الجيني من الجيل التالي (NGS) بحساسية تحليلية تبلغ 99.9% للطفرات النقطية والإدراجات/الحذف، مع تغطية كاملة للإكسونات مؤكدة بتقنية سانجر التأكيدية لكل نتيجة مرضية.
Q3: Is home sample collection available across the UAE?
A: Yes, our ISO‑certified phlebotomy team performs painless blood draws at your residence or workplace from 8 AM to 11 PM, with cold‑chain transport to the laboratory included.
ج: نعم، يقوم فريق سحب الدم المعتمد لدينا بجمع العينة من منزلك أو مكان عملك من الساعة 8 صباحاً حتى 11 مساءً، مع نقلها في سلسلة تبريد مضمونة إلى المختبر.
Pre‑Test Requirements: A detailed clinical history including age at onset, renal imaging findings, and family pedigree is mandatory. A pre‑test genetic counselling session to document a three‑generation pedigree chart of relatives affected with nephronophthisis is required. Samples accepted: Whole Blood (EDTA tube), Extracted DNA, or one drop of blood on an FTA card.
This is performed under UAE Federal Decree‑Law No. 41 of 2024 (Art. 87, medical confidentiality), the UAE Child Protection Law (CDS) 2026 for genetic testing in minors, and UAE PDPL. All genomic data are secured per ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Facility License 9834453.
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