Test Price
2,800 AED✅ Home Collection Available
RFX6 Gene Mitchell‑Riley Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics
✓ Accuracy Guarantee: 99.9% diagnostic sensitivity for coding regions of RFX6 via ISO 9001:2015 certified NGS processing.
✓ Logistics: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection (daily 8 AM – 11 PM) for standard blood specimens.
✓ Clinical Guidance: Telephonic post‑test interpretation by a board‑certified genetic counsellor, aligned with DHA genomic medicine protocols.
✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731 — confirm coverage before sample collection.
Test Overview & Methodology
The RFX6 gene NGS test provides definitive molecular diagnosis of Mitchell‑Riley syndrome, a rare autosomal recessive disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder agenesis. This single‑gene analysis delivers 100% coverage of all coding exons and intron‑exon boundaries, enabling early intervention and multidisciplinary clinical planning. The test is recommended for confirmatory diagnosis in neonates with clinical suspicion and for family cascade screening.
| Feature | Our Test (RFX6 NGS) | Closest Alternative (Generic Metabolic Gene Panel) |
|---|---|---|
| Diagnostic Precision | 100% coding region coverage of RFX6, single‑nucleotide variant & indel detection | Partial coverage, may miss deep intronic or regulatory mutations |
| Methodology | Next‑Generation Sequencing (Illumina NovaSeq) with Sanger confirmation | Mixed capture‑based sequencing, often without single‑gene resolution |
| Turnaround Time | 3 to 4 Weeks with ISO‑accredited bioinformatics pipeline | 4 to 6 Weeks, variable quality |
Physician Insight & Safety Protocols
“Mitchell‑Riley syndrome is a multisystem disorder; genetic confirmation allows precise prognostic counselling and early surgical intervention. I always correlate NGS results with clinical and biochemical findings—no single test replaces a thorough physical examination and family history. Your child’s multidisciplinary team must interpret these results.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory: Medication & Treatment Continuity
Do not discontinue any prescribed medication, especially insulin or other glucose‑regulating drugs, without direct consultation with your treating physician. This genetic test informs long‑term management but does not replace acute clinical decisions. All treatment changes must be supervised by the managing endocrinologist.
Safety Exclusions & Red Flags
- Not for emergency use: If the patient shows signs of intestinal obstruction, severe hypoglycemia, or septic shock, seek immediate emergency care.
- Minors policy: For patients under 18, a legal guardian must provide explicit consent (in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability) and be present during sample collection.
- Sample integrity: Avoid testing during acute hemolysis or if the blood sample is clotted; recollect if cold‑chain breach is suspected.
- Genetic counselling prerequisite: A pre‑test genetic counselling session (including pedigree chart analysis) is mandatory before proceeding with this test.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of RFX6 gene testing for Mitchell‑Riley syndrome?
RFX6 gene NGS testing confirms a diagnosis of Mitchell‑Riley syndrome with >99% diagnostic accuracy, guiding neonatal diabetes management and anticipating multiple congenital anomalies for proactive multidisciplinary care. The test is used by geneticists, endocrinologists, and neonatologists to confirm clinical suspicion and plan long‑term surveillance.
2. How is the sample collected and what is the turnaround time?
A standard blood draw (whole blood in EDTA tube) or extracted DNA sample is collected via certified VIP mobile phlebotomy at your home between 8 AM and 11 PM, daily. Results are available within 3 to 4 weeks. For neonates, a dried blood spot on an FTA card is also accepted. The sample is transported under strict cold‑chain conditions to our ISO‑accredited laboratory.
3. Does UAE health insurance cover the 2800 AED cost?
We verify direct billing eligibility with your insurer via WhatsApp (+971 54 548 8731) before the sample is collected, ensuring coverage under DHA‑regulated genetic testing benefits. Out‑of‑pocket payment options are also available. Contact us to check your specific plan.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: All services comply 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. The laboratory is licensed by the Dubai Health Authority (DHA) and operates under an ISO 9001:2015 quality management system (Cert: INT/EGQ/2509DA/3139). Patient data is processed under strict confidentiality and consent protocols in line with UAE health data protection standards.
Clinical & Logistical Metadata
| Test Name | RFX6 Gene NGS Sequencing for Mitchell‑Riley Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card); VIP Mobile Phlebotomy & Cold‑Chain Home Collection Available Daily 8 AM – 11 PM |
| Methodology Used | Next‑Generation Sequencing (Illumina NovaSeq) with Sanger Confirmation |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes) |
| LOINC Code | 95005-5 (RFX6 gene analysis in blood) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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