Test Price
2,800 AED✅ Home Collection Available
OCA2 Gene (Oculocutaneous Albinism Type 2) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS 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, 7 days a week.
- ✓ Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by DHA-licensed genetic counselors.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
- ✓ Physician Oversight: Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA ID: 9294403.
Test Overview & Methodology
The OCA2 Gene (Oculocutaneous Albinism Type 2) Genetic Test is a comprehensive NGS-based molecular diagnostic tool for confirming Oculocutaneous Albinism Type 2 (OCA2), an autosomal recessive disorder characterized by reduced pigmentation of the skin, hair, and eyes, with significant ophthalmological manifestations including nystagmus, photophobia, and foveal hypoplasia.
Pre-Test Requirements & Sample Logistics
- ●Clinical History: A detailed clinical history including age of onset, severity of hypopigmentation, visual acuity assessments, and presence of nystagmus or strabismus must be provided prior to testing.
- ●Genetic Counselling: A mandatory pre-test genetic counselling session is required to draw a comprehensive pedigree chart documenting all family members affected with OCA2. This ensures accurate risk stratification and cascade testing planning.
- ●Accepted Sample Types: Whole Blood (EDTA tube), Extracted DNA (≥1 µg), or One Drop of Blood on FTA Card. All samples collected via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection.
- ●Medication Note: No routine medications interfere with germline genetic testing. However, patients on chronic immunosuppressive therapy should inform the laboratory at the time of sample submission.
- ●Fasting: Not required for germline DNA testing.
| Feature | Our Test — NGS OCA2 Full Gene | Standard Single-Gene PCR Panel |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) — Full Gene Coverage | Sanger Sequencing / Targeted PCR — Limited Loci |
| Diagnostic Sensitivity | 99.9% — Detects SNVs, Indels, Copy Number Variants | ~85% — Misses Large Deletions & Non-Coding Variants |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (Multi-Step Reflex) |
| Clinical Report | DHA-Compliant with ACMG Variant Classification | Basic Variant List — No Clinical Interpretation |
| Price | 2800 AED | 1500 – 2200 AED (Incomplete) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA ID: 9294403) — "Our NGS-based OCA2 test provides families with a definitive molecular answer, ending the diagnostic odyssey that many endure for years. A positive result must always be correlated with clinical findings by a multidisciplinary team including dermatology, ophthalmology, and genetics. Early diagnosis enables timely visual rehabilitation, sun protection protocols, and informed family planning decisions that can transform a child's quality of life."
Clinical correlation is essential. This test identifies genotypes; the full phenotypic spectrum requires expert clinical assessment. Do not delay specialist referrals pending genetic results.
Advisory: Medication & Sample Collection
⚠️ IMPORTANT: Do not discontinue any prescribed medication without consulting your doctor. This genetic test analyzes germline DNA and is not affected by pharmacotherapy. No medication adjustment is required prior to sample collection.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- ✗ Active chemotherapy within 14 days (may affect DNA quality from whole blood).
- ✗ Recent bone marrow transplant (donor DNA confounding).
- ✗ Inability to provide informed consent (for minors, parental/guardian consent per UAE law).
- ✗ Insufficient sample quantity (< 1 mL whole blood for pediatric patients).
Emergency Red Flags — Seek Immediate Medical Attention
- ⚠ Sudden skin lesion changes or ulceration in hypopigmented areas.
- ⚠ Acute visual deterioration or severe photophobia with headache.
- ⚠ Signs of skin infection or severe sunburn in albinism-affected individuals.
- ⚠ Any new neurological symptom (nystagmus worsening, balance issues).
If you experience any of the above, proceed to your nearest DHA-licensed emergency department or call 998 for ambulance services within the UAE.
Patient FAQ & Clinical Guidance
1. What is the OCA2 Genetic Test, and why is it important for my child's diagnosis?
The OCA2 Genetic Test is a comprehensive DNA sequencing assay that analyzes the entire OCA2 gene to identify disease-causing mutations responsible for Oculocutaneous Albinism Type 2, providing a definitive molecular diagnosis with 99.9% sensitivity. This test is critical because clinical diagnosis of albinism subtypes can be imprecise — OCA2 may clinically overlap with OCA1, OCA3, or OCA4. A molecular confirmation enables accurate prognosis, tailored ophthalmological intervention, and precise genetic counselling for future pregnancies. Without genetic confirmation, families may receive incomplete or incorrect recurrence risk estimates.
2. How is the sample collected, and is home collection available in the UAE?
A certified phlebotomist collects a small blood sample via a standard venous draw or a single drop on an FTA card, and our ISO-certified VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain service brings hospital-grade collection directly to your doorstep across all seven emirates from 8 AM to 11 PM daily. The procedure is minimally invasive and takes under 10 minutes. For infants and young children, we use specialized pediatric collection techniques to minimize discomfort. Samples are transported in temperature-controlled logistics that maintain specimen integrity, arriving at our DHA-licensed facility within 4 hours of collection. Extracted DNA samples from external laboratories are also accepted, provided they meet our quality thresholds of ≥1 µg and OD 260/280 ratio of 1.8–2.0.
3. What do the results mean, and how long will it take to receive them?
Results are delivered within 3 to 4 weeks in a DHA-compliant ACMG-classified report that clearly indicates whether pathogenic OCA2 variants were detected, with telephonic post-test clinical guidance included to explain implications for treatment, surveillance, and family planning. A positive result (two pathogenic variants identified) confirms the diagnosis of OCA2 and enables precise dermatological and ophthalmological management, including sun protection protocols and low-vision aids. A carrier result (one variant only) indicates that the individual is a heterozygous carrier — clinically unaffected but at risk of passing the condition to offspring if the partner is also a carrier. A negative result significantly reduces the likelihood of OCA2 but does not exclude other albinism subtypes; further testing for TYR (OCA1), TYRP1 (OCA3), or SLC45A2 (OCA4) genes may be recommended based on clinical phenotype.
UAE Regulatory & Data Privacy Adherence
Clinical & Logistical Metadata
| Test Name | OCA2 Gene (Oculocutaneous Albinism Type 2) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (≥1 µg), or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) — Full Gene Coverage |
| ICD-10-CM Code | E70.3 (Oculocutaneous Albinism) |
| LOINC Code | 74899-0 (OCA2 gene full mutation analysis) |
| DHA Facility License & Address | License 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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