Next-Generation Sequencing (NGS) Corneal Dystrophy Panel in UAE | 3200 AED | DHA Licensed

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing with orthogonal Sanger confirmation of all clinically significant variants.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and Abu Dhabi.
Clinical Guidance: Post-test telephonic counselling session with a Consultant Medical Geneticist to interpret results and recommend next steps.
Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.

Core Metrics

3200 AEDPanel Price

45 DaysTurnaround Time

>95%Detection Rate

99.9%Sensitivity

Test Overview & Methodology

The NGS Corneal Dystrophy Panel simultaneously sequences all clinically validated genes associated with hereditary corneal dystrophies, delivering a definitive molecular diagnosis. This test is the gold standard for confirming clinical suspicion, guiding surgical decisions, and enabling cascade family screening. The panel covers the complete coding regions and splice sites of genes such as TGFBI, CHST6, COL8A2, KRT3, KRT12, GSN, TACSTD2, and UBIAD1, among others.

Feature	NGS Corneal Dystrophy Panel	Single-Gene Sanger Sequencing
Genes Analyzed	All known corneal dystrophy genes (15+ genes)	1 gene (targeted)
Detection Rate	>95% of pathogenic variants across all subtypes	Limited to known hotspots in a single gene
Turnaround Time	45 working days	30–45 working days
Variant Validation	Every significant variant confirmed by Sanger sequencing	Sanger only (no orthogonal confirmation)
Price	3,200 AED	~2,400 AED

Physician Insight & Safety Protocols

"As a DHA-licensed Consultant Medical Geneticist, I emphasize that a pathogenic or likely pathogenic variant identified by this panel provides a molecular diagnosis that must be interpreted in conjunction with corneal topography, slit-lamp examination findings, and detailed family history. A negative result does not exclude non-genetic aetiologies or variants in genes not yet associated with corneal dystrophy. Variants of Uncertain Significance (VUS) require further segregation analysis and expert review. I strongly recommend all patients discuss their results with both a genetic counsellor and their treating ophthalmologist before making any surgical or therapeutic decisions." — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory Notice

Medication Continuation Advisory

Genetic test results provide diagnostic and prognostic information but do not override current clinical management. Patients must not discontinue, adjust, or alter any prescribed ophthalmic or systemic medication without explicit instruction from their treating physician. Always consult your doctor before making changes to your treatment regimen.

Safety Exclusion Criteria & Emergency Signs

Exclusion Criteria: Whole blood transfusion or bone marrow transplant within the past 6 weeks may yield donor-derived DNA and compromise test accuracy. Patients unable to provide informed consent or complete the mandatory Whole Exome Sequencing Consent Form (Form 37) are not eligible for testing.
Emergency Indicators: Sudden severe eye pain, rapid unilateral or bilateral vision loss, acute corneal oedema or clouding, or photophobia with ciliary injection are medical emergencies unrelated to genetic testing. These symptoms require immediate ophthalmic evaluation at the nearest emergency department.

Patient FAQ & Clinical Guidance

1. What does the NGS Corneal Dystrophy Panel detect exactly?

This panel sequences the coding regions and splice junctions of all major genes implicated in hereditary corneal dystrophies, including TGFBI, CHST6, COL8A2, KRT3, KRT12, GSN, TACSTD2, and UBIAD1. It identifies single-nucleotide variants, small insertions and deletions, and canonical splice-site variants with >95% sensitivity. The result enables classification into specific dystrophy subtypes (e.g., granular, lattice, macular, Reis–Bücklers, Thiel-Behnke) and informs prognosis, surgical planning, and family screening.

2. How is the blood sample collected in Dubai or Abu Dhabi?

A certified phlebotomist from our team visits your home or office between 8 AM and 11 PM daily. The collection involves drawing two 5 mL lavender-top EDTA tubes (peripheral whole blood). Samples are immediately placed in temperature-controlled cold-chain packaging and transported to our ISO-accredited laboratory in Dubai Healthcare City. The Whole Exome Sequencing Consent Form (Form 37) must be reviewed and signed prior to collection; our staff will provide the form and assist with completion if needed.

3. What do the results look like and how are they delivered?

Results are reported as Positive (pathogenic or likely pathogenic variant identified), Negative (no clinically significant variant found), or Variant of Uncertain Significance (VUS). Every report includes a detailed interpretation by our Consultant Medical Geneticist, including ACMG/AMP classification, population frequency data, and in silico prediction scores. A telephonic post-test counselling session is scheduled to explain the report, discuss implications for family members, and coordinate referral to an ophthalmologist or genetic counsellor as needed.

4. Can this test be done during pregnancy or for a child?

Yes, the test can be performed on individuals of any age. For minors, a parent or legal guardian must provide signed informed consent using Form 37. The sample volume required (two 5 mL EDTA tubes) is safe for children weighing more than 10 kg. Prenatal testing using amniotic fluid or chorionic villus sampling is also possible; please contact our genetics team for case-by-case evaluation.

UAE Regulatory & Data Privacy Adherence

Data Protection & Regulatory Compliance

DNA Labs UAE 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. All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes with explicit patient consent. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is ISO 9001:2015 certified and holds a valid DHA Facility License (No. 1143).

The laboratory is located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All testing and reporting procedures follow CAP/CLIA-equivalent quality standards with mandatory variant confirmation by Sanger sequencing.

Clinical & Logistical Metadata

Test Name	Next-Generation Sequencing (NGS) Corneal Dystrophy Panel
Price (AED)	3,200 AED
Turnaround Time	45 working days
Sample Type / Matrix	Peripheral whole blood (two 5 mL lavender-top EDTA tubes)
Methodology Used	Next-Generation Sequencing (NGS) with Sanger confirmation of all clinically significant variants
ICD-10-CM Code	H18.5 (Hereditary corneal dystrophy), Z14.8 (Genetic susceptibility to disease)
LOINC Code	93793-3
DHA Facility License & Laboratory Address	DHA Facility License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE