Test Price
2,800 AED✅ Home Collection Available
PNPLA1 Gene Sequencing for Autosomal Recessive Congenital Ichthyosis
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity through ISO-Accredited Next‑Generation Sequencing.
- Premium Logistics: Hospital‑Grade Home Collection via ISO‑Certified Cold‑Chain & VIP Mobile Phlebotomy (8 AM‑11 PM).
- Clinical Guidance: Telephonic Post‑Test Expert Consultation on Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- Oversight: Headed by Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403).
Test Overview & Methodology
This comprehensive genetic test utilises Next‑Generation Sequencing (NGS) to analyse the entire coding region of the PNPLA1 gene, confirming the diagnosis of autosomal recessive congenital ichthyosis (ARCI) with ISO‑certified accuracy. The proprietary bioinformatics pipeline ensures precise variant calling and clinical interpretation.
Comparative Analysis
DNA Labs UAE – ISO 15189:2022 Certified
- Precision: Full gene sequencing (all exons & splice sites)
- Method: NGS with proprietary bioinformatics pipeline
- Speed: Definitive report in 3‑4 weeks
- Pre‑test: Mandatory genetic counselling & pedigree chart included
Closest Alternative (Standard Laboratory)
- Precision: Targeted mutation panel or Sanger sequencing (limited coverage)
- Method: Non‑accredited in‑house protocols
- Speed: 5‑8 weeks or longer
- Pre‑test: Often no genetic counselling support
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist working extensively with inherited dermatological conditions, I recognise the profound impact a precise molecular diagnosis has on family planning and clinical management. This comprehensive PNPLA1 sequencing provides the definitive answers needed to guide targeted therapy and accurate recurrence risk counselling."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403
Clinical Advisory & Safety Precautions
Do not discontinue or alter any prescribed medication (emollients, retinoids, or hormone therapy) without explicit instruction from your treating physician. Genetic results are not a substitute for clinical care and must be interpreted within the full clinical context by a qualified specialist.
Exclusion Criteria (Patient Safety)
- Individuals unwilling to attend a mandatory pre‑test genetic counselling session.
- Minors without fully informed consent from a legal guardian, in alignment with Federal Law No. 2 of 2019.
- Acute medical emergencies where sample collection could delay critical care intervention.
Emergency Red Flags – Seek Immediate Medical Attention
- Signs of hypernatremic dehydration, sepsis, or hypothermia in a collodion baby.
- Sudden worsening of skin blisters, deep fissures, or secondary infection.
- Respiratory distress or feeding difficulties in infancy.
Patient FAQ & Clinical Guidance
1. What exactly does the PNPLA1 gene test detect, and how soon can I get results?
This test detects disease‑causing variants in the PNPLA1 gene responsible for autosomal recessive congenital ichthyosis (ARCI) with 99.9% diagnostic accuracy. Results are typically delivered within 3 to 4 weeks following receipt of the sample at our ISO‑accredited laboratory.
2. Is a doctor’s referral mandatory, and do I need genetic counselling before the blood draw?
A physician’s referral (Dermatologist, Pediatrician, or Neonatologist) is strongly recommended to ensure clinical appropriateness. A pre‑test genetic counselling session is compulsory to construct a family pedigree chart and secure fully informed consent, in strict adherence to Federal Law No. 2 of 2019.
3. How does the home collection service work, and is my data protected under UAE law?
Our VIP mobile phlebotomy team visits your home or office daily between 8 AM and 11 PM, utilising validated temperature‑controlled cold‑chain transport for blood samples. All personal and genetic data are processed in full compliance with the UAE Personal Data Protection Law (PDPL) and Federal Law No. 2 of 2019, ensuring absolute confidentiality.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Stewardship
DNA Labs UAE strictly adheres to the highest standards of medical data protection and regulatory compliance governing genetic testing in the United Arab Emirates.
- Data Protection: Full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring robust encryption, access controls, and lawful processing of genetic information.
- Health Information Governance: Strict conformance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, safeguarding the confidentiality and integrity of electronic health records.
- Clinical Safety & Liability: All clinical testing and patient consent procedures align with Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing patient rights and safety throughout the diagnostic journey.
Clinical & Logistical Metadata
| Test Name | PNPLA1 Gene Sequencing for Autosomal Recessive Congenital Ichthyosis (ARCI) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) with full coding region coverage & proprietary bioinformatics analysis |
| ICD-10-CM Code | Q80.8, Q80.9 |
| LOINC Code | 81263-5 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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