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Test Price

2,800 AED

✅ Home Collection Available

RLBP1 Gene Bothnia Retinal Dystrophy Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

99.9% Diagnostic Sensitivity – ISO 9001:2015 Certified Processing

🏥 VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily 8 AM to 11 PM

📞 Post-Test Clinical Guidance – Telephonic Interpretation by Genetic Counsellor

💳 Insurance Direct Billing – Verify via WhatsApp +971 54 548 8731

Test Overview & Methodology

This test uses Next-Generation Sequencing (NGS) to screen the entire coding region of the RLBP1 gene, confirming or excluding Bothnia retinal dystrophy – a rare, progressive retinal degeneration. The assay detects single nucleotide variants, small insertions/deletions, and exon-level copy number changes with >99.9% analytic accuracy.

Feature Our Test (RLBP1 NGS Gold Standard) Closest Alternative
Precision 100% RLBP1 coverage with variant-level resolution General retinal dystrophy panel; may omit deep intronic regions
Method NGS (Illumina® platform, clinically validated) NGS or microarray, variable coverage
Turnaround 3–4 weeks 4–6 weeks or longer

Physician Insight & Safety Protocols

“As a consultant medical geneticist, I understand the profound impact a genetic diagnosis can have on patients and their families. This RLBP1 NGS test delivers a definitive molecular diagnosis, enabling precise counselling on disease progression and inheritance patterns. However, genetic results must always be correlated with a comprehensive ophthalmic examination and detailed family history.”

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

Safety Advisory

⚠️ Medication Safety Notice

Do not discontinue any prescribed medication (e.g., ocular hypotensives, systemic steroids) without consulting your physician. Genetic testing does not replace ongoing clinical management.

Exclusion Criteria & Red Flags

  • Exclusion: Blood transfusion within 8 weeks, active systemic infection, or inability to provide informed consent.
  • Exclusion: For DNA FTA cards, insufficient blood spot volume or contamination.
  • Red Flag (Seek Immediate Eye Care): Sudden loss of vision, severe eye pain, photophobia with nausea – these are not related to sample collection but may indicate acute retinal emergency.
  • Red Flag: If you experience worsening night blindness or visual field constriction while waiting for results, contact your ophthalmologist immediately.

Patient FAQ & Clinical Guidance

1. What is required for the RLBP1 NGS test and how is it performed?

A single peripheral blood sample (5–10 mL in EDTA), extracted genomic DNA, or a dried blood spot on an FTA card is used. The entire coding region of RLBP1 is sequenced using clinically validated NGS with >99.9% analytic accuracy. Results are interpreted by a DHA‑licensed clinical geneticist.

2. Who will interpret my result and will I receive genetic counselling?

A DHA‑licensed consultant medical geneticist provides a comprehensive interpretation of your result. A telephonic post‑test counselling session will be scheduled to explain the findings, discuss inheritance risk, and recommend any necessary follow‑up for family members.

3. Can this test be used for family screening or predictive testing in minors?

Yes, the test can identify at‑risk relatives. Predictive testing of minors is performed only with parental consent and pre‑test counselling, in compliance with UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability and the applicable ethical guidelines.

UAE Regulatory & Data Privacy Adherence

This diagnostic service operates under the regulatory framework of the Dubai Health Authority (DHA) and complies fully 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, clinical, and personal data are encrypted and stored within secure UAE‑based servers. No information is shared with third parties without explicit patient consent. The laboratory is ISO 9001:2015 certified and follows strict quality assurance protocols.

Clinical & Logistical Metadata

Test Name RLBP1 Gene Analysis for Bothnia Retinal Dystrophy (NGS)
Price (AED) 2,800 AED
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card)
Methodology Used Next-Generation Sequencing (NGS) – Illumina® platform, clinically validated
ICD-10-CM Code H35.52 (Retinal dystrophy)
LOINC Code 101484-1 (RLBP1 gene mutation analysis in Blood or Tissue by NGS)
DHA Facility License & Laboratory Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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