Test Price
2,800 AEDโ Home Collection Available
PXDN Gene Corneal Opacification and Other Ocular Anomalies Genetic Test in UAE
Executive Summary & Core Metrics
Why Trust Our Genetic Test?
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic result interpretation by a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
This NGS test analyzes the PXDN gene to detect pathogenic variants causing congenital corneal opacification and associated ocular anomalies, providing a definitive molecular diagnosis for affected families.
Pre-Test Information
A mandatory genetic counselling session is required before sample collection to document family pedigree and clinical history. This ensures accurate interpretation and adherence to UAE genetic counselling guidelines in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Test Overview & Methodology
This state-of-the-art NGS test examines the entire coding region of the PXDN gene to detect pathogenic variants that cause congenital corneal opacification and developmental eye anomalies. The test offers a definitive molecular diagnosis, enabling targeted clinical management and genetic counselling for families affected by this rare inherited disorder.
Results allow ophthalmologists to confirm clinical suspicion, guide prognosis, and assess recurrence risk in future pregnancies, all within a validated 3โ4 week turnaround time.
| Feature | Our NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Precision | 99.9% analytical sensitivity and specificity | Approximately 95% for single variants |
| Method | Next-Generation Sequencing with Sanger confirmation | Conventional capillary electrophoresis |
| Speed | 3โ4 weeks | 5โ6 weeks |
| Throughput | Complete gene coverage including exons and splice sites | Single exon analysis at a time |
Physician Insight & Safety Protocols
โAs a consultant medical geneticist, I emphasize that PXDN genetic testing requires careful clinical correlation. A thorough ophthalmologic examination, family pedigree, and pre-test genetic counselling are essential for accurate interpretation. A negative result does not exclude all genetic causes of corneal opacity; broader testing may be indicated based on clinical findings.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your physician. This genetic test does not replace ongoing ophthalmic care or medical treatment. Always follow your doctorโs advice regarding eye medications or systemic therapy.
Exclusion Criteria and Emergency Red Flags
- Severe bleeding disorder or inability to provide a blood sample; consider alternative cheek swab collection.
- Acute eye pain, sudden severe vision loss, or bulging of the eye โ seek immediate emergency ophthalmic evaluation before elective testing.
- Uncooperative child or adult where safe venous access cannot be obtained; alternative specimen types may be discussed with the geneticist.
Patient FAQ & Clinical Guidance
1. What is the PXDN gene NGS test and why is it performed?
The PXDN gene NGS test uses next-generation sequencing to detect pathogenic mutations in the PXDN gene that cause congenital corneal opacification and other developmental eye anomalies. It is performed to confirm a clinical diagnosis, guide management decisions, assess recurrence risk in future pregnancies, and provide accurate genetic counselling for affected families. The test is indicated when an ophthalmologist suspects PXDN-related disease based on clinical examination and family history, particularly in infants presenting with cloudy corneas.
2. How is the test performed and what sample is required?
A simple blood sample or cheek swab is collected by a DHA-licensed home phlebotomist using our VIP mobile phlebotomy service. DNA is then extracted and the entire PXDN gene is sequenced using high-throughput NGS technology with Sanger confirmation of detected variants. Accepted specimen types include whole blood, extracted DNA, or dried blood spots on FTA cards. Ocular fluid may be considered in select cases. The entire process from collection to final report takes 3โ4 weeks, with strict temperature-controlled cold-chain transport to preserve DNA integrity. Pre-test genetic counselling is mandatory to document family history and clinical pedigree.
3. What do the results mean and what are the possible outcomes?
Results may identify a disease-causing variant confirming the diagnosis, detect a variant of unknown significance requiring additional family studies, or return negative. A positive result pinpoints the genetic cause, enabling accurate recurrence risk estimation (typically autosomal recessive pattern) and prenatal testing options. A negative result does not exclude all genetic causes; broader testing may be recommended by your doctor. All results are interpreted by a consultant medical geneticist and communicated in a comprehensive report, followed by a telephonic session to explain the clinical implications and guide next steps.
UAE Regulatory & Data Privacy Adherence
Our laboratory strictly adheres to the following UAE healthcare regulations to ensure data privacy and patient safety:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing secure processing and cross-border transfer of sensitive genetic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure digital handling of genetic data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient consent and safety in clinical testing procedures.
All samples are processed under DHA facility license number 1143, and our laboratory operates with ISO 9001:2015 certification for quality management.
Clinical & Logistical Metadata
| Test Name | PXDN Gene Corneal Opacification and Other Ocular Anomalies Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or cheek swab (buccal mucosa) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | H17.8 |
| LOINC Code | 94221-7 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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