Test Price
2,800 AED✅ Home Collection Available
RPGRIP1L Gene COACH Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinically validated diagnostic assay for definitive molecular confirmation of COACH syndrome via complete RPGRIP1L gene sequencing.
- Accuracy Guarantee: 99.9% diagnostic sensitivity for RPGRIP1L pathogenic variants via ISO 9001:2015 accredited NGS processing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RPGRIP1L gene COACH syndrome NGS test is a clinically validated next-generation sequencing assay that detects pathogenic variants in the RPGRIP1L gene, enabling precise molecular diagnosis of COACH syndrome. The assay is indicated for patients presenting with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis, and supports genetic counseling and family risk assessment. Full gene coding regions and splice sites are covered at a mean depth of 100× with >99.9% target base call accuracy.
| Feature | Our Test (RPGRIP1L NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Methodology | Targeted NGS with complete RPGRIP1L coverage | Whole exome sequencing with incidental findings |
| Turnaround Time | 3 to 4 weeks | 8 to 12 weeks |
| Diagnostic Sensitivity | 99.9% for RPGRIP1L pathogenic variants | Variable; often requires confirmatory single-gene testing |
Physician Insight & Safety Protocol
“As a consultant medical geneticist, I consider RPGRIP1L gene sequencing an essential step toward definitive molecular confirmation of COACH syndrome when cerebellar, ocular, hepatic, and developmental features are present. A positive result enables targeted family counseling, recurrence risk estimation, and surveillance planning. However, a negative result does not exclude all ciliopathies—clinical correlation with brain MRI, ophthalmologic exam, and liver function studies remains critical. Always review your results with a board-certified medical geneticist and your referring specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Genetic Counseling Requirement
Mandatory pre-test genetic counseling is required prior to sample collection. Do not discontinue any prescribed medication without consulting your physician. This genetic test does not require fasting or drug withdrawal. A signed informed consent document must be completed during the counseling session.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals experiencing an acute medical emergency, inability to provide informed consent, or recent allogeneic blood transfusion (less than 120 days) or bone marrow transplant (risk of mixed germline DNA).
- Emergency Red Flags: Seek immediate emergency care if the patient develops sudden loss of consciousness, intractable seizures, acute jaundice, or signs of hepatic failure before proceeding with genetic testing.
Patient FAQ & Clinical Guidance
1. What is the RPGRIP1L gene COACH syndrome genetic test?
This test uses next-generation sequencing to detect pathogenic variants in the RPGRIP1L gene that cause COACH syndrome. It is indicated for individuals with clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis, and aids in definitive diagnosis and family risk assessment.
2. Who should consider this test?
Individuals with ataxia, coloboma, developmental delay, and suspected COACH syndrome should consider this RPGRIP1L genetic test for molecular confirmation. It is especially valuable for children with unexplained cerebellar and hepatic findings and for families seeking a precise genetic cause for neurological and liver manifestations.
3. How is the sample collected?
A whole blood sample or dried blood spot is collected at home by our certified phlebotomist via VIP mobile phlebotomy. The specimen is transported using a temperature-controlled cold chain to our ISO-accredited laboratory for NGS testing. Results are available within 3 to 4 weeks.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: This test operates in full compliance 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. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and is licensed by the Dubai Health Authority (DHA Facility License: 1143). All genetic data is encrypted and stored within UAE-based servers.
Clinical & Logistical Metadata
| Test Name | RPGRIP1L Gene COACH Syndrome NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood or dried blood spot (peripheral) – VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM – 11 PM. |
| Methodology Used | Targeted next-generation sequencing (NGS) with complete RPGRIP1L coding region and splice site coverage at 100× mean depth |
| ICD-10-CM Code | Q04.3 |
| LOINC Code | 81403-8 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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