Test Price
2,800 AED✅ Home Collection Available
INVS Gene Nephronophthisis Type 2 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- ✓ 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 & Methodology
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. 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.
| 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 & Safety Protocols
“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.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA: 9294403
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.
Exclusion Criteria & Emergency Red Flags
- 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.
Patient FAQ & Clinical Guidance
1. 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.
2. 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.
3. 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.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient safety and informed consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genomic data are secured per ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | INVS Gene Nephronophthisis Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with confirmatory Sanger Sequencing |
| ICD-10-CM Code | Q61.11 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate: DNA Labs UAE |
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