Test Price
2,800 AEDโ Home Collection Available
PYCR1 Gene (Cutis Laxa Type 3B, Autosomal Recessive) Genetic Test in UAE โ 2800 AED
Executive Summary & Core Metrics
This PYCR1 NGS test delivers 99.9% diagnostic sensitivity for detecting pathogenic variants causing autosomal recessive cutis laxa type 3B. Processing is conducted under ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139). We offer VIP mobile phlebotomy with temperature-controlled cold-chain home collection, available daily from 8 AM to 11 PM, followed by a post-test telephonic consultation with a consultant medical geneticist for clinical interpretation.
ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139)
Hospital-Grade Cold-Chain, 8 AM โ 11 PM
Telephonic Interpretation by Genetic Experts
Verify via WhatsApp: +971 54 548 8731
Test Overview & Methodology
The PYCR1 NGS Test is a state-of-the-art genetic analysis that detects pathogenic variants in the PYCR1 gene, which causes autosomal recessive cutis laxa type 3B. Performed via Next-Generation Sequencing on DNA extracted from whole blood or FTA cards, it delivers full coverage of coding regions and intronic boundaries with 99.9% accuracy. The methodology also incorporates MLPA for deletion and duplication analysis, ensuring comprehensive variant detection.
| Feature | Our Test (NGS via Illumina) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS with 30ร average depth, full exonic + intronic boundaries coverage | Targeted Sanger sequencing of selected exons only |
| Turnaround Time | 3 to 4 Weeks (guaranteed) | 6โ8 Weeks due to sequential analysis |
| Diagnostic Yield | 99.9% sensitivity for point mutations, small indels, CNVs | ~85% (misses deep intronic variants) |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) emphasizes: โThis NGS test is an essential tool for confirming PYCR1-related cutis laxa, enabling precise molecular diagnosis and informed genetic counseling. Results must always be interpreted within the full clinical context and correlated with dermatological and systemic findings. We provide complimentary post-test telephonic guidance to help patients and families understand the implications and plan appropriate follow-up care.โ
โ Safety Exclusion Criteria & Red Flags
- Do not discontinue any prescribed medication before testing. Consult your doctor.
- Relative contraindications: Active severe infection, recent major surgery, or unstable cardiac conditions require physician clearance.
- Emergency Red Flags: Sudden skin blistering, respiratory distress, or signs of vascular rupture warrant immediate emergency care. This test is elective and not for acute diagnosis.
- Minors: Compulsory genetic counseling and parental consent are required before sample collection.
- Heparin-based gel tubes interfere with DNA extraction โ dedicated collection kits are provided.
Pre-test Requirement: A clinical history form and a genetic counseling session to draw a pedigree chart are mandatory before sample collection. Our team will arrange this upon booking.
Patient FAQ & Clinical Guidance
1. What is the PYCR1 gene test used for?
Direct answer: The PYCR1 NGS test accurately identifies disease-causing mutations in the PYCR1 gene, confirming a diagnosis of autosomal recessive cutis laxa type 3B with 99.9% precision. It guides clinical management, surveillance, and family counseling.
2. How is the sample collected and what is the turnaround time?
Direct answer: A whole blood sample or DNA on an FTA card is collected at your home by a certified phlebotomist using a temperature-controlled cold-chain kit. Results are delivered within 3 to 4 weeks.
3. Is this test covered by insurance in the UAE?
Direct answer: Many UAE insurers cover genetic testing for hereditary skin disorders. We offer direct billing verification via WhatsApp at +971 54 548 8731. Please contact us to confirm your policy eligibility.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance: This service operates 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. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic counseling and testing protocols are DHA and MOHAP approved. Laboratory processing is conducted under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) in a CAP-accredited partner facility.
Methodology: Next-Generation Sequencing (NGS) with MLPA for deletion/duplication coverage.
Clinical & Logistical Metadata
| Test Name | PYCR1 Gene (Cutis Laxa Type 3B, Autosomal Recessive) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood or FTA Card Specimen |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA for deletion/duplication coverage |
| ICD-10-CM Code | Q82.8, Z15.09, L98.8 |
| LOINC Code | 94448-5 |
| DHA Facility License & Laboratory Address | License No: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians