Test Price
2,800 AED✅ Home Collection Available
PRKCSH Gene Polycystic Liver Disease Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Test: PRKCSH Gene Sequencing – Next-Generation Sequencing (NGS) for Autosomal Dominant Polycystic Liver Disease (ADPLD)
Price: 2,800 AED (all-inclusive, no hidden fees)
Turnaround Time: 21–28 Business Days (3–4 Weeks)
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing
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 included
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This NGS-based genetic test screens the entire coding region and splice junctions of the PRKCSH gene, the major cause of autosomal dominant polycystic liver disease (ADPLD). The assay detects pathogenic or likely pathogenic variants with 99.9% diagnostic sensitivity, helping UAE patients with hepatomegaly, renal involvement, or a positive family history to confirm the diagnosis, guide surveillance, and inform family planning. The analysis is performed using Illumina HiSeq/NovaSeq platforms with bioinformatic confirmation of all clinically significant findings.
| Feature | Our PRKCSH NGS Test | Closest Alternative (Targeted Genotyping) |
|---|---|---|
| Precision / Coverage | Full gene sequencing (all exons, ±10 bp splice sites). Sensitivity >99.9% for SNVs, indels, CNVs. | Only a predefined set of common variants; misses >30% of mutations. |
| Methodology | Next‑Generation Sequencing (Illumina HiSeq/NovaSeq) with bioinformatic confirmation | Sanger sequencing or MLPA for known hotspots |
| Turnaround Time | 21–28 Business Days (3–4 Weeks) | 2–4 Weeks (but lower yield) |
| Regulatory Compliance | ISO 9001:2015, DHA/MOHAP Licensed, UAE PDPL & Federal Health Data Frameworks | May lack UAE‑specific accreditation |
Physician Insight & Safety Protocols
“Genetic testing for PRKCSH variants provides powerful diagnostic clarity, yet it must always be interpreted within the full clinical context. A pathogenic variant confirms autosomal dominant polycystic liver disease and enables cascade screening for at-risk relatives. A negative result does not eliminate the possibility of a phenocopy or an alternate genetic etiology—ongoing clinical surveillance remains essential. Pre-test genetic counseling with a detailed three-generation pedigree is mandatory to ensure informed decision-making and accurate result interpretation.”
– Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory – Medication & Clinical Management
Do not discontinue, alter, or adjust any prescribed medication or treatment regimen without explicit instruction from your treating physician. Genetic test results are intended to inform clinical decision-making alongside full medical evaluation—they are not a substitute for ongoing specialist care.
Exclusion Criteria & Safety Red Flags
- Minors (under 18 years) without documented parental/guardian consent and a prior genetic counseling session conducted in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Absence of clinical or family history suggestive of polycystic liver disease.
- Acute liver failure, decompensated cirrhosis, or active hepatic cyst infection.
- Pregnancy (unless medically indicated after specialist consultation).
Emergency Warning: If you experience sudden severe right upper abdominal pain, jaundice, fever, rigors, or signs of cyst rupture or haemorrhage, seek immediate hospital emergency care—do not wait for genetic test results.
Pre-test requirement: A genetic counseling session to draw a detailed pedigree chart of family members affected with PRKCSH-related disease is mandatory. Please provide your complete clinical history and any prior imaging reports at the time of sample collection.
Patient FAQ & Clinical Guidance
1. What is the PRKCSH gene and why is this test important for my health?
The PRKCSH gene encodes the glucosidase II beta subunit, a protein critical for proper bile duct integrity in the liver. Pathogenic variants in this gene are the most common cause of autosomal dominant polycystic liver disease (ADPLD). This NGS test identifies disease-causing mutations with high accuracy, enabling early diagnosis, personalized surveillance planning, and informed family planning decisions for UAE patients with a personal or family history of liver cysts.
2. How is the sample collected and what is the turnaround time for results?
A DHA-licensed phlebotomist collects a peripheral whole blood sample (EDTA tube) during a scheduled VIP home visit, available daily from 8 AM to 11 PM. Alternatively, a saliva sample using an Oragene DNA kit may be used. The sample is transported via temperature-controlled cold chain to our ISO-accredited laboratory. Results are delivered through a secure online portal within 21–28 business days (3–4 weeks) from sample receipt.
3. What do positive, negative, or variant of uncertain significance (VUS) results mean for my care?
A positive (pathogenic or likely pathogenic) result confirms the genetic diagnosis of ADPLD and enables cascade testing for at-risk first-degree relatives. A negative result reduces but does not eliminate the possibility of a genetic cause—other genes (e.g., SEC63, LRP5) or non-genetic etiologies remain possible. A VUS requires periodic reclassification as scientific knowledge evolves; your genetics consultant will guide appropriate follow-up and surveillance in all scenarios.
4. Is pre-test genetic counseling mandatory and what does it involve?
Yes, a pre-test genetic counseling session with a qualified genetics professional is mandatory before sample collection. During this session, a detailed three-generation family pedigree is constructed, the implications of possible results are explained, and informed consent is obtained. This process ensures you fully understand the scope, limitations, and potential outcomes of PRKCSH genetic testing in accordance with UAE regulatory requirements.
5. How does this test differ from standard liver imaging or liver function tests?
Abdominal ultrasound, CT, or MRI can detect the presence of liver cysts, and liver function tests assess hepatic health, but neither can determine the underlying genetic cause. PRKCSH gene sequencing provides a definitive molecular diagnosis, distinguishes ADPLD from other cystic liver conditions, and enables precise risk assessment for family members—information that imaging and blood chemistry alone cannot deliver.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Protection
All genetic data generated by this test is processed, stored, and transmitted in full compliance with 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 consent, data minimization, and secure encryption protocols are applied at every stage of the testing workflow.
Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that all genetic counseling, sample collection, and result disclosure meet the highest standards of medical accountability.
Accreditation & Licensing
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | DHA Facility License No. 1143 | Corporate Lab: DNA Labs UAE
WhatsApp Support & Booking: +971 54 548 8731 (8 AM – 11 PM daily)
Clinical & Logistical Metadata
| Test Name | PRKCSH Gene Sequencing (Polycystic Liver Disease Genetic Test) – Next-Generation Sequencing |
| Price (AED) | 2,800 AED (all-inclusive) |
| Turnaround Time | 21–28 Business Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA) or Saliva (Oragene DNA Kit) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Whole Gene Coverage (all exons and ±10 bp splice sites) with Bioinformatic Confirmation on Illumina Platform |
| ICD-10-CM Code | Q44.6 (Cystic disease of liver) |
| LOINC Code | 88544-6 (PRKCSH gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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