Test Price
2,800 AEDโ Home Collection Available
RIN2 Gene Macrocephaly, Alopecia, Cutis Laxa, & Scoliosis Genetic Test in UAE
Executive Summary & Core Metrics
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).
- Clinical Guidance: Telephonic post-test clinical guidance in result interpretation by DHA-licensed clinical geneticists.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The RIN2 NGS test detects pathogenic variants in the entire coding region of the RIN2 gene, confirming the clinical diagnosis of the rare MACS syndrome (Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis). Using ultra-deep Next-Generation Sequencing, this test provides definitive molecular diagnosis and clinical guidance for affected families in the UAE.
| Features | Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for full gene analysis | ~98% for targeted mutations only |
| Methodology | Next-Generation Sequencing (NGS) | Sanger sequencing of specific exons |
| Turnaround Time | 3 to 4 weeks | 6 to 8 weeks (outsourced) |
Physician Insight & Safety Protocols
โA positive or negative result on this NGS test must always be correlated with the patientโs clinical phenotype and family history. If your child experiences acute neurological symptoms such as severe headache, vomiting, or rapid head growth, seek emergency care immediately regardless of test results.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Pre-Test Considerations
Important Medication & Safety Advisory
Do not discontinue any prescribed medication or therapy without consulting your doctor. This genetic test does not replace immediate clinical assessment or emergency care.
Exclusion Criteria & Emergency Red Flags
- Not for emergency testing. Turnaround time does not support acute management.
- Contraindicated if the patient presents with active systemic infection or severe coagulopathy (may affect blood collection).
- ER Red Flags: Sudden onset of bulging fontanelle, projectile vomiting, sunsetting eyes, or seizures demand immediate neurological evaluation independent of test results.
- For minors, parental/legal guardian consent is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the RIN2 NGS test and why is it ordered?
The RIN2 gene next-generation sequencing test analyzes the entire coding region of RIN2 to diagnose macrocephaly-alopecia-cutis laxa-scoliosis syndrome with 99.9% diagnostic sensitivity. It is ordered when clinical dysmorphology suggests MACS syndrome and confirmation is needed for prognosis, surveillance, and family counselling.
2. How is the sample collected and what are the preparation requirements?
Sample collection requires a simple blood draw (whole blood EDTA) or DNA FTA card; a pre-test genetic counseling session is mandatory to draw a pedigree chart of affected family members. No fasting is necessary, but the clinic will verify that a clinical history form has been completed before phlebotomy.
3. What do the results mean and how will I receive clinical guidance?
Results are interpreted by a DHA-licensed clinical geneticist and include a post-test telephonic consultation to explain clinical implications and next steps in management. A positive report identifies the specific variant, while a negative report may require further testing or reassessment of the clinical diagnosis.
UAE Regulatory & Data Privacy Adherence
Your data privacy is protected under UAE law
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly complies 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. All genetic information is handled with the highest confidentiality and is used solely for diagnostic purposes with your explicit consent.
Clinical & Logistical Metadata
| Test Name | RIN2 Gene (Macrocephaly, Alopecia, Cutis Laxa, Scoliosis) โ NGS Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or DNA FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Whole gene coding region analysis |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 95278-0 (RIN2 gene full sequencing) |
| DHA Facility License & Address | Facility License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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