Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3 to 4 Weeks
RAB27A Gene Griscelli Syndrome Type 2 Genetic Test in UAE
ISO 9001:2015 CertifiedExecutive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ Available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic consultation with a DHA-licensed clinical geneticist for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the RAB27A gene to detect pathogenic variants causing Griscelli syndrome type 2โa rare autosomal recessive disorder characterized by partial albinism, severe immunodeficiency, and high risk of hemophagocytic lymphohistiocytosis (HLH). Early molecular diagnosis is critical for guiding hematopoietic stem cell transplantation and immunomodulatory therapy.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Diagnostic Precision | Full RAB27A gene sequencing with NGS + MLPA for deletion/duplication analysis | Targeted mutation panel (limited to known hotspots) |
| Methodology | Next Generation Sequencing (Illumina platform) with >1000X coverage | Sanger sequencing of select exons |
| Turnaround Time | 3 to 4 Weeks | 6โ8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"Early identification of pathogenic RAB27A variants directly impacts patient outcomes by enabling prompt referral for allogeneic hematopoietic stem cell transplantation. However, a negative result does not completely rule out atypical presentations; comprehensive functional assays and family segregation studies may be warranted. All results should be discussed within a multidisciplinary genetic counselling framework."
Medication Advisory
โ ๏ธ Medication Advisory: Do not discontinue prescribed medication without consulting your physician. Genetic results may inform therapy adjustments, which must be conducted under strict medical supervision.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Specimen collected without a signed informed consent and pre-test genetic counselling session.
- Acute infection or inflammatory state that may interfere with lymphocyte analysis for confirmation.
- Individuals with known hypersensitivity to anticoagulants used in blood collection (if applicable).
- ER Red Flags: Sudden onset of fever, splenomegaly, respiratory distress, or neurological changes after result disclosure โ seek immediate medical care.
Patient FAQ & Clinical Guidance
1. What is the RAB27A gene test used for?
This test identifies pathogenic variants in the RAB27A gene to confirm a diagnosis of Griscelli syndrome type 2 and guide lifesaving treatment including stem cell transplantation. It is also used for carrier testing in at-risk family members.
2. How is the sample collected and what are the requirements?
A simple blood draw (whole blood EDTA) or buccal swab (DNA FTA card) is collected by our mobile phlebotomist after a mandatory pre-test genetic counselling session to draw a family pedigree. No special preparation is needed, but fasting is not required.
3. Is insurance accepted for this genetic test?
We provide direct billing verification with most UAE insurers. Submit your insurance details via WhatsApp for instant pre-authorization before scheduling the collection.
For appointment or clinical guidance, WhatsApp: +971 54 548 8731
UAE Regulatory & Data Privacy Adherence
Data Protection & Health ICT Compliance
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic data is processed with explicit consent, stored encrypted in UAEโbased servers, and used solely for diagnostic purposes.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health records and telemedicine services adhere to strict security standards for handling health information.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical decisions and genetic counselling are conducted under the liability framework ensuring patient safety and informed consent.
Clinical & Logistical Metadata
| Test Name | RAB27A Gene Griscelli Syndrome Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Buccal Swab (DNA FTA Card) |
| Methodology Used | Next Generation Sequencing (Illumina platform) with >1000X coverage |
| ICD-10-CM Code | E70.330 |
| LOINC Code | 92822-5 |
| DHA Facility License & Address | DHA Facility License Number: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No special preparation is needed", "Fasting is not required"]
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