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Test Price

2,800 AED

✅ Home Collection Available

PDE6C Cone-Rod Dystrophy Type 4 Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

99.9% Diagnostic Sensitivity — ISO 9001:2015 Accredited Laboratory (Cert: INT/EGQ/2509DA/3139)

Home Collection: VIP Mobile Phlebotomy via ISO-Certified Cold Chain, 8 AM – 11 PM, all Emirates.

Post‑Test Guidance: Complimentary tele‑consultation for result interpretation with a Clinical Geneticist.

Insurance Support: Direct billing verification — WhatsApp +971 54 548 8731.

Test Overview & Methodology

The PDE6C NGS test sequences the entire coding region of the PDE6C gene to detect mutations causing autosomal recessive cone‑rod dystrophy type 4, a severe inherited retinal dystrophy. This test is performed on a peripheral whole blood sample.

Feature Our PDE6C NGS Test Single‑Gene Sanger Sequencing
Technology Next‑Generation Sequencing (NGS) Sanger Sequencing
Coverage Full gene (exons, intron‑exon boundaries) Usually selected exons only
Turnaround Time 3 – 4 weeks 4 – 6 weeks
Diagnostic Yield Excellent for all variant types Misses deep‑intronic/copy‑number variants
Price in UAE 2800 AED Approx. 3500 AED

All pricing includes DHA‑licensed home collection, genetic counselling, and ISO‑certified analysis.

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403

“A confirmed PDE6C mutation provides families with a definitive genetic diagnosis, enabling accurate recurrence risk counselling and potential inclusion in future gene‑therapy trials. This result must be interpreted together with clinical and electrophysiological findings; a genetic result alone is not a diagnosis. Genetic test results should not be used to modify medication without consulting your specialist.”

Advisory – Medication Warning

Do Not Discontinue Prescribed Medications

Please do not stop any prescribed ocular or systemic medications without explicit instruction from your treating physician. Genetic test results do not replace clinical management and should not be used to alter treatments.

Exclusion Criteria & Emergency Red Flags

  • This test is not appropriate for acute vision loss emergencies — proceed to the nearest ER immediately.
  • Minors (<18) require consent from a legal guardian per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Patients who have undergone allogeneic bone marrow transplant within 12 months — sample may give false donor DNA.
  • Seek emergency care if you experience: sudden severe eye pain, flashing lights accompanied by a curtain‑like shadow, or rapid visual field constriction.

Patient FAQ & Clinical Guidance

1. What does a PDE6C genetic test reveal about my eye condition?

The PDE6C identifies pathogenic mutations in the PDE6C gene that cause cone‑rod dystrophy type 4, helping your ophthalmologist confirm the diagnosis and predict disease course.

2. How is the DNA sample collected, and is it safe?

A DHA‑licensed phlebotomist visits your home (8 AM – 11 PM) to draw a small blood sample or to collect a finger‑prick spot on an FTA card, ensuring full cold‑chain integrity.

3. How long will it take to receive my results, and will someone explain them?

Results are issued in 3 to 4 weeks through a secure portal, and a complimentary genetic counselling session is included to interpret the findings.

UAE Regulatory & Data Privacy Adherence

Data Protection: All patient data is handled in strict 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. Your genetic information is encrypted and stored securely within UAE‑based servers.

Clinical Safety: This test is performed under the ethical and safety standards of Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent and professional accountability.

Clinical & Logistical Metadata

Test Name PDE6C Cone-Rod Dystrophy Type 4 Genetic Test
Price (AED) 2800
Turnaround Time 3 – 4 weeks
Sample Type / Matrix Whole Blood (Peripheral Venous)
Methodology Used Next‑Generation Sequencing (NGS) – Full gene coverage
ICD-10-CM Code H35.54 (Cone-rod dystrophy)
LOINC Code 21636-6 (Genetic analysis – Inherited retinal disorder)
DHA Facility License & Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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