Replication Factor C1 (RFC1 – 80G>A) Mutation Screening | 700 AED | DHA Licensed Lab

Executive Summary & Core Metrics

99.9% Diagnostic Sensitivity – ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection – Available daily 8 AM–11 PM.
Telephonic Post‑Test Guidance – Expert clinical interpretation support from a DHA‑licensed physician.
Insurance Direct Billing – Pre‑approval verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

Replication Factor C1 (RFC1) mutation screening identifies the 80G > A variant – a clinically actionable marker linked to hereditary cancer predisposition and adult‑onset neurological syndromes such as CANVAS. Our targeted endpoint PCR with RFLP delivers rapid, cost‑effective results within 3–4 days, enabling timely genetic counselling and personalised surveillance.

Feature	Our Test – RFC1 PCR+RFLP	Closest Alternative – NGS Panel
Methodology	Endpoint PCR with Restriction Fragment Length Polymorphism (RFLP) – gold‑standard for single variant detection	Next‑Generation Sequencing (NGS) multigene panel
Analytical Sensitivity	>99.9% for the 80G > A variant	~99% but may miss low‑level mosaicism
Turnaround Time	3–4 calendar days	7–14 days
Cost (UAE)	700 AED	1,500–3,000 AED
Clinical Utility	Directly confirms the high‑yield 80G > A risk allele; ideal for targeted family screening	Broad analysis but often returns variants of uncertain significance, delaying action

Physician Insight & Safety Protocols

Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403)

“A positive RFC1 result does not equate to a cancer diagnosis; it opens a door to risk‑reducing surveillance. I always pair this test with thorough genetic counselling so patients understand the actionable steps.” Clinical correlation with personal and family history is essential before initiating any preventive intervention.

⚠ Medication Advisory

Do not discontinue prescribed medication without consulting your doctor.

Exclusion Criteria & Emergency Red Flags

Minors (under 18) require legal guardian consent and a dedicated paediatric prescription, in strict compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Do not proceed with home collection if the patient is haemodynamically unstable, has active severe bleeding, or signs of acute stroke/myocardial infarction – call emergency services immediately.
Routine surgical or travel clearance: a prescription is not required, but a written clinical justification must accompany the request.
Pregnancy cases: a prescription is not mandatory; however, a pre‑test consultation with a maternal‑fetal medicine specialist is strongly advised.

Patient FAQ & Clinical Guidance

1. What is the RFC1 mutation screening test and why is it performed?

The RFC1 mutation screening test detects the 80G > A variant in the RFC1 gene associated with hereditary cancer susceptibility and neurological conditions. It helps oncologists and clinical geneticists assess lifetime risk for malignancies and, in some individuals, confirm a diagnosis of CANVAS spectrum disorder. Results guide tailored surveillance and early intervention.

2. How is the test performed and when will I receive the results?

A peripheral blood sample is collected via VIP Mobile Phlebotomy and analysed using endpoint PCR with RFLP, delivering results in 3–4 days. Our phlebotomists follow ISO‑certified cold‑chain protocols, and you can book collection through WhatsApp at +971 54 548 8731. The report includes a clear interpretation and recommendations for clinical follow‑up.

3. Do I need a prescription and is this covered by insurance?

A doctor’s prescription is required except for surgery, pregnancy, or travel abroad cases; insurance pre‑approval is verified via WhatsApp. We directly coordinate with major UAE insurers to confirm coverage and minimise out‑of‑pocket expenses. For any plan‑specific queries, send your policy details to +971 54 548 8731 before booking.

UAE Regulatory & Data Privacy Adherence

This laboratory service conforms to 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 testing is performed in a DHA‑accredited facility (License 1143) with rigorous quality controls. ISO 9001:2015 Certified (INT/EGQ/2509DA/3139). Clinical safety and patient consent comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name	Replication Factor C1 (RFC1 – 80G>A) Mutation Screening
Price (AED)	700
Turnaround Time	3–4 calendar days
Sample Type / Matrix	Peripheral blood (VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection)
Methodology Used	Endpoint PCR with Restriction Fragment Length Polymorphism (RFLP)
ICD‑10‑CM Code	Z15.09, Z13.79, Z84.81
LOINC Code	95701-9
DHA Facility License & Laboratory Address	DHA License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| Corporate: DNA Labs UAE