Test Price
2,800 AED✅ Home Collection Available
CACNA1F Gene Aland Island Eye Disease Genetic Test in Dubai | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Genetic Counselling for result interpretation by a Consultant Medical Genetics specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This diagnostic assay employs targeted Next-Generation Sequencing (NGS) utilising the Illumina NovaSeq platform to analyse the entire coding region and splice-site boundaries of the CACNA1F gene. The test identifies pathogenic and likely pathogenic variants responsible for Aland Island eye disease (AIED), an X-linked congenital stationary night blindness disorder. A custom ACMG-guided bioinformatic pipeline enables high-confidence variant calling, including detection of copy-number variants (CNVs) across all exons. Results are correlated with clinical phenotype and family history to provide a definitive molecular diagnosis.
| Feature | Our Test (Premium NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage (all exons, splice sites) with deep read depth & CNV detection | Targeted hot‑spot analysis only; may miss novel or deep intronic variants |
| Methodology | Illumina NovaSeq NGS, ACMG‑guided bioinformatic pipeline | Capillary electrophoresis; manual, lower throughput |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Often non‑accredited |
Physician Insight & Safety Protocols
Insight by Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“This NGS-based CACNA1F sequencing offers a high diagnostic yield for X-linked congenital stationary night blindness. However, the genetic result must be interpreted alongside a complete ophthalmological evaluation, including electroretinography and a three-generation pedigree. A negative result does not exclude other genetic or acquired causes of night blindness. I always recommend pre- and post-test genetic counselling to ensure families understand recurrence risks and implications for screening.”
Advisory Note for Patients
Medication Continuity: Do not discontinue any prescribed ophthalmic or systemic medication without consulting your treating physician. Genetic testing does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patients under 1 month of age without urgent clinical justification; individuals with severe, untreated coagulopathy or active bleeding disorders that increase blood draw risk; inability to provide informed consent.
- Emergency Red Flags: If you experience sudden vision loss, severe ocular pain, photopsia (flashing lights), or a curtain‑like shadow across your vision, seek immediate emergency ophthalmologic care. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the CACNA1F gene test for Aland Island eye disease?
Direct Answer: This test sequences the CACNA1F gene to detect pathogenic variants causing X-linked congenital stationary night blindness type 2A (Aland Island eye disease). It provides a definitive molecular diagnosis, enabling accurate genetic counselling, carrier detection, and family planning.
2. How should I prepare, and what sample is required?
Direct Answer: No fasting or special preparation is needed. The test accepts a peripheral whole blood sample (3–5 mL in EDTA tube), a dried blood spot on an FTA card, or previously extracted genomic DNA. Our mobile phlebotomist can collect the sample at your home between 8 AM and 11 PM, with temperature-controlled cold-chain transport.
3. Is genetic counselling included and when will I receive results?
Direct Answer: Pre- and post-test genetic counselling is strongly recommended and available via telephonic consultation with our Consultant Medical Genetics specialist. Results are issued within 3 to 4 weeks after sample accession. A detailed clinical report with variant interpretation and management recommendations will be provided.
4. Can this test detect carriers of Aland Island eye disease?
Direct Answer: Yes. Because the CACNA1F gene is X-linked, female carriers can be identified through NGS sequencing with high sensitivity. Carrier detection is critical for reproductive risk assessment and family planning. All carrier results are confirmed by orthogonal methodology before reporting.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA) and adheres strictly to the following UAE federal data protection and health information governance laws:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genetic data is encrypted at rest and in transit, access-controlled, and processed only for the explicit purpose of diagnostic reporting. No data is shared with third parties without written patient consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our health information systems comply with mandatory cybersecurity standards, audit logging, and breach notification protocols for all electronic health data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical testing, patient consent, and result disclosure procedures follow the medical liability framework ensuring patient safety and professional accountability.
Clinical & Logistical Metadata
| Test Name | CACNA1F Gene Aland Island Eye Disease Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA card), or Extracted Genomic DNA |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) on Illumina NovaSeq platform; ACMG-aligned variant interpretation pipeline with CNV detection |
| ICD-10-CM Code | H53.63 |
| LOINC Code | 81247-7 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians