Test Price
2,800 AED✅ Home Collection Available
RAX2 Gene Cone-Rod Dystrophy Type 11 Genetic Test in UAE
Executive Summary & Core Metrics
Clinical-grade genetic testing with 99.9% diagnostic sensitivity, processed in a DHA-licensed, ISO 9001:2015 certified facility. VIP mobile phlebotomy and post-test clinical guidance are included.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-accredited Next-Generation Sequencing.
- Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RAX2 NGS test detects pathogenic variants in the RAX2 gene, definitively confirming Cone-Rod Dystrophy Type 11. This single-gene analysis delivers targeted, rapid answers essential for accurate prognosis, family screening, and eligibility for emerging gene therapies. Next-Generation Sequencing covers the full gene including exon boundaries, enabling detection of single nucleotide variants, insertions, deletions, and copy number variations with high confidence.
| Parameter | Our RAX2 NGS Test | Traditional Sanger Sequencing |
|---|---|---|
| Coverage | Full gene (exons ±20 bp boundaries) – all variants detectable | Only previously reported hot-spot mutations |
| Diagnostic Sensitivity | >99.9% for SNVs, indels, and CNVs | ~95% for known variants; misses novel mutations |
| Turnaround Time | 3–4 Weeks (expedited reporting available) | 2–3 Weeks (limited panel only) |
| Clinical Utility | Definitive diagnosis + genetic counselling + therapy guidance | Partial confirmation in known familial mutation |
Physician Insight & Safety Protocols
"As a clinical geneticist, I recognize the profound impact a molecular diagnosis of cone-rod dystrophy can have on a patient's life. This targeted RAX2 gene analysis provides the definitive evidence needed for accurate prognosis, informed family counselling, and timely referral to emerging therapeutic options. Results must always be interpreted within the full clinical context."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Do not discontinue any prescribed medication without consulting your treating ophthalmologist or primary care physician. Genetic test results should be reviewed alongside comprehensive clinical examination and family history.
Clinical Exclusion Criteria & Red Flags
- Exclusion: Recent blood transfusion (<2 weeks), active systemic infection, or inability to attend mandatory genetic counselling.
- Urgent Red Flags: Sudden vision loss, severe eye pain, new-onset neurological symptoms (e.g., seizure, confusion). Seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What is the RAX2 gene test used for?
This test identifies disease-causing mutations in the RAX2 gene linked to cone-rod dystrophy type 11, guiding clinical management, family planning, and eligibility for gene-based therapies.
2. How long does it take to receive results?
Results are typically available within 3 to 4 weeks, with an optional expedited preliminary report for urgent clinical decision-making.
3. Is home sample collection available across the UAE?
Yes, we offer VIP mobile phlebotomy service throughout all emirates from 8 AM to 11 PM, using ISO-certified cold-chain logistics to preserve DNA integrity.
4. Do I need genetic counselling before or after testing?
Yes, mandatory pre-test and post-test genetic counselling with a qualified genetics professional is included to ensure informed consent and result comprehension.
5. What sample type is required for this genetic test?
A standard peripheral whole blood sample (2-5 mL) collected in an EDTA tube, or a buccal swab for non-invasive collection. Both methods provide sufficient DNA for full gene analysis.
UAE Regulatory & Data Privacy Adherence
This service fully adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genetic data privacy, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health information governance. Clinical safety and informed consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All sample handling follows DHA-mandated cold-chain protocols. Laboratory facility license # 1143, ISO 9001:2015 certified.
Clinical & Logistical Metadata
| Test Name | RAX2 Gene Cone-Rod Dystrophy Type 11 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited reporting available) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Buccal Swab: Collection via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Sequencing with CNV Detection |
| ICD-10-CM Code | H35.52 |
| LOINC Code | 88627-3 |
| DHA Facility License & Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians