Test Price
2,800 AED✅ Home Collection Available
RAB3GAP2 Gene (Martsolf Syndrome) Genetic Test in Dubai | 2,800 AED | NGS Sequencing
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance with result interpretation by Consultant Medical Genetics.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
DHA Facility License 1143 | Corporate Lab: DNA Labs UAE | Regulatory Framework: PDPL & Federal Health Data Law
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region of the RAB3GAP2 gene to definitively diagnose Martsolf syndrome—a rare autosomal recessive disorder marked by congenital cataracts, intellectual disability, and hypogonadism. High-depth coverage (≥100X) ensures robust detection of pathogenic variants across all exons and splice sites, providing a definitive molecular diagnosis for affected individuals and at-risk family members.
| Feature | Our Test (NGS – ISO 9001:2015) | Alternative Approach (Sanger Sequencing) |
|---|---|---|
| Precision | NGS – full coding region & splice sites | Sanger – limited to single variant confirmation |
| Method | Next Generation Sequencing (Illumina™) | Capillary Electrophoresis |
| Turnaround | 3–4 Weeks | 4–6 Weeks |
| Coverage | High depth (≥100X) | Limited to selected exons |
Physician Insight & Safety Protocols
“This molecular test is essential for confirming Martsolf syndrome in patients presenting with the classic triad of congenital cataracts, developmental delay, and hypogonadism. The results should always be integrated with a comprehensive clinical evaluation and three-generation pedigree analysis to deliver accurate recurrence risk counseling. A consultation with a clinical geneticist is strongly advised before testing and upon receiving the report.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Precautions Before Testing
⚠ Do not discontinue any prescribed medication without explicit instruction from your referring physician.
Exclusion Criteria & Emergency Red Flags
Safety Exclusion Criteria
- Not for asymptomatic minors without parental consent – Federal Decree-Law No. 4 of 2016 on Medical Liability prohibits genetic testing in minors without legal guardian approval.
- Contraindicated in acute febrile illness or severe infection; defer blood draw until recovery.
- Not indicated as the sole diagnostic tool for isolated cataracts without syndromic suspicion.
Emergency Red Flags
- Sudden developmental regression, new-onset seizures, or loss of previously acquired milestones—urgent pediatric neurology evaluation required.
- Severe feeding difficulties or failure to thrive in infancy necessitates immediate clinical assessment.
Patient FAQ & Clinical Guidance
1. What is the purpose of RAB3GAP2 gene testing?
RAB3GAP2 gene testing identifies pathogenic variants causing Martsolf syndrome, enabling precise diagnosis, genetic counseling, and informed family planning for at-risk relatives. The test detects mutations across the entire coding region and splice junctions using high-depth NGS technology.
2. How long does it take to receive results?
Results are typically delivered within 3 to 4 weeks from sample receipt. The turnaround time reflects the comprehensive bioinformatics analysis, variant classification, and clinical interpretation required for definitive reporting.
3. Is a doctor’s referral required for this test?
Yes, a referral from a pediatrician, neurologist, or clinical geneticist is mandatory. Self-referral is not permitted under UAE healthcare regulations for genetic diagnostic testing. Pre-test genetic counseling is also required.
4. What sample is needed for the test and how should it be prepared?
A peripheral whole blood sample (5 mL in EDTA tube) or extracted DNA is required. No fasting or medication adjustments are needed unless specifically advised by your doctor. Our VIP mobile phlebotomy service can collect samples at your home between 8 AM and 11 PM daily.
5. Who will have access to my genetic data?
Your genetic data is protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on health information technology. Results are shared only with you, your referring physician, and as required by applicable regulatory authorities.
UAE Regulatory & Data Privacy Adherence
Compliance Framework: This genetic testing service is operated under the Dubai Healthcare City (DHCC) regulatory authority and fully adheres to the UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All clinical and genomic data is processed in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Laboratory operations are certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) ensuring stringent quality management across pre-analytical, analytical, and post-analytical phases.
Clinical & Logistical Metadata
| Test Name | RAB3GAP2 Gene (Martsolf Syndrome) Sequencing – NGS |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Extracted DNA – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next Generation Sequencing (Illumina™) – Full Coding Region & Splice Sites, High Depth (≥100X) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81315-1 |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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