Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 weeks from sample receipt
TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 Genetic Test in UAE | 2,800 AED | DHA-Approved
Executive Summary & Core Metrics
๐ฏ Diagnostic Accuracy: 99.9% Analytical Sensitivity via ISO 9001:2015 Certified NGS Processing
๐ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM to 11 PM)
๐ Clinical Guidance: Telephonic Post-Test Clinical Interpretation by DHA-Licensed Specialists
๐ณ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
The TDRD7 genetic test provides definitive molecular diagnosis for autosomal recessive congenital cataract type 4 (ARCC4) using advanced next-generation sequencing, enabling precise family planning, carrier screening, and early surgical intervention.
Test Overview & Methodology
The TDRD7 Genetic Test identifies pathogenic variants in the TDRD7 gene responsible for autosomal recessive congenital cataract type 4 (ARCC4), a severe infantile lens opacity that can lead to amblyopia and lifelong visual impairment if untreated. This UAE-based next-generation sequencing assay delivers a 99.9% analytical sensitivity with results in 3โ4 weeks, fully compliant with DHA Genetic Testing regulations and ISO 9001:2015, providing definitive molecular diagnosis, carrier screening, and informed family planning.
| Feature | Our NGS Test | Alternative (Sanger / Karyotyping) |
|---|---|---|
| Mutation Coverage | Entire TDRD7 gene โ all exons & splice sites | Single-exon hot-spot or structural changes only |
| Analytical Sensitivity | >99.9% (confirmed by spiked-in controls) | ~95% for point mutations; misses indels |
| Turnaround Time | 3โ4 weeks | 4โ8 weeks (often multi-step) |
| Methodology | NGS (Illumina NovaSeq 6000) + IGV variant calling | PCR + Sanger / G-banding |
| VUS Resolution | Comprehensive bioinformatics + ACMG classification | Limited; often requires additional testing |
| Clinical Relevance | Direct correlation with congenital cataract phenotype | May miss splice/del mutations |
Physician Insight & Safety Protocols
โAs a consultant in medical genetics, I work closely with families confronting a potential diagnosis of congenital cataract. This NGS test delivers the molecular precision needed to guide surgical timing, genetic counselling, and surveillance for associated syndromes. A positive result is not a sentence but a starting point for proactive eye care. Always correlate genetic findings with a detailed ophthalmic examination and a three-generation pedigree analysis.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Treatment Precautions
โ ๏ธ Critical Medication Advisory
Do not pause, alter, or discontinue any prescribed therapy โ particularly corticosteroids, immunosuppressants, or anti-epileptic agents โ without direct consultation with your treating physician. This genetic test does not evaluate pharmacologic interactions; abrupt cessation may provoke severe metabolic, endocrine, or neurological complications. Always discuss medication adjustments with your doctor prior to sample collection.
Exclusion Criteria & Emergency Indicators
- Exclusion Criteria: Unsuitable if blood/DNA sample is hemolysed, clotted, or drawn from a donor within 24 hours after blood transfusion; samples with suspected bacterial overgrowth or visible contamination will be rejected. Patients unable to provide age-appropriate informed consent require parental or legal guardian authorization per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: If the child develops sudden eye redness, photophobia, leukocoria with pain, or corneal clouding after sample collection, seek immediate ophthalmic emergency care. Do not wait for test results.
Patient FAQ & Clinical Guidance
1. What exactly does the TDRD7 gene test detect?
This next-generation sequencing test reads the entire TDRD7 gene to identify disease-causing mutations responsible for congenital cataract type 4, delivering a definitive molecular diagnosis and carrier status. It detects single nucleotide variants, small insertions/deletions, and copy-number changes down to exon level. The result enables accurate genetic counselling and guides early surgical intervention.
2. How is the sample collected and what preparation is needed?
Our UAE-licensed phlebotomists collect a small peripheral whole blood sample, a dried blood spot on an FTA card, or extracted DNA via temperature-controlled cold-chain transport, all from the comfort of your home. No fasting is required, but a genetic counselling session is mandatory to draw a pedigree chart and obtain informed consent. For infants, a heel-prick or venous blood draw is used. The entire process is ISO 9001:2015 compliant.
3. What is the turnaround time and total cost in the UAE?
Results are reported within 3 to 4 weeks from sample receipt, and the comprehensive test price is 2,800 AED, inclusive of pre-test counselling and post-test clinical discussion. This fee covers sample collection, sequencing, bioinformatics analysis, and final interpretation signed by a DHA-licensed molecular geneticist. Direct insurance billing can be confirmed via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
- Licensed under DHA Facility No. 1143; operates in full compliance with MOHAP genetic testing regulations.
- Strict adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ all genetic data encrypted at rest and in transit; no offshore storage or third-party access without explicit consent.
- Compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health records and telemedicine consultations.
- Clinical safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, mandating documented informed consent and pre-test genetic counselling for all minors.
- ISO 9001:2015 Certified (Certificate No. INT/EGQ/2509DA/3139) for consistent quality management and cold-chain integrity.
Clinical & Logistical Metadata
| Test Name | TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral Whole Blood, Dried Blood Spot (FTA card), or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq 6000 with IGV variant calling and ACMG classification |
| ICD-10-CM Code | Q12.0 (Congenital cataract) |
| LOINC Code | 81258-2 (Genetic counseling and testing panel) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No fasting required", "Genetic counselling session mandatory for informed consent and pedigree chart"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians