GNAT2 Gene Achromatopsia Type 4 Genetic Test in UAE – 2800 AED

Executive Summary & Core Metrics

Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited Next‑Generation Sequencing.
Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM).
Clinical Guidance: Post‑test telephonic interpretation by a Consultant Medical Geneticist.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The GNAT2 gene NGS test scans the entire coding region, splice sites, and flanking intronic regions to detect pathogenic variants that cause complete achromatopsia (type 4) from birth. This test guides precise ophthalmological care, low‑vision rehabilitation, and genetic counselling. The high‑depth sequencing (>100x) ensures detection of mosaicism and rare variants with >99.9% sensitivity.

Feature	Our NGS Test	Sanger Sequencing (Alternative)
Gene Coverage	Full gene (all exons + splice sites)	Single exon or hotspot analysis
Diagnostic Sensitivity	>99.9%	~85% (variant dependent)
Turnaround Time	3–4 Weeks	4–8 Weeks
Cost (AED)	2,800	Often >4,500 (fragmented analysis)

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist, I understand that a potential diagnosis of achromatopsia in a child can be overwhelming. This test, combined with a comprehensive ophthalmological evaluation and genetic counselling, empowers families with the knowledge to plan early interventions, access low‑vision resources, and make informed reproductive choices. A positive result does not define the child’s potential – support, adaptive technologies, and community networks enable a full, productive life.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403

Important Advisory

This genetic test is intended for diagnostic confirmation and does not replace a detailed eye examination by an ophthalmologist. Do not alter or discontinue any prescribed medication, therapy, or low‑vision aids based solely on genetic results without professional medical advice.

Safety Exclusion Criteria & Emergency Red Flags

Inability to provide informed consent (patient or legal guardian).
Acute systemic illness or febrile episode within 24 hours of sample collection.
Recent intraocular surgery (within the last 4 weeks) – defer sample collection.
Known bleeding disorders that contraindicate venipuncture – alternative FTA card collection is available.

Seek immediate emergency care if you experience: sudden complete vision loss, severe eye pain, intense photophobia with headache, or signs of retinal detachment (flashes/floaters).

Patient FAQ & Clinical Guidance

1. What is GNAT2‑related achromatopsia and how is this test performed?

Achromatopsia type 4 is an autosomal recessive disorder causing complete inability to see color from birth, often with nystagmus and photophobia. This genetic test uses a simple blood draw, a drop of blood on an FTA card, or previously extracted DNA. Next‑generation sequencing reads every exon of the GNAT2 gene, identifying pathogenic variants with 99.9% accuracy.

2. Do I need genetic counselling before taking this test?

Yes, pre‑test genetic counselling is mandatory. Our certified genetic counsellor will review your family history, draw a detailed pedigree chart, explain the autosomal recessive inheritance pattern, and discuss implications for family planning. Informed consent is obtained before sample collection, ensuring you fully understand the potential outcomes and reproductive options.

3. How long do results take and who will interpret them?

Results are available within 3 to 4 weeks. A Consultant Medical Geneticist will provide a telephonic interpretation session to explain your report, discuss any detected variants, and recommend follow‑up ophthalmological care, low‑vision resources, and genetic counselling for at‑risk relatives. Emergency findings are communicated immediately.

4. Can home collection be arranged for this test?

Yes, VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection is available daily from 8 AM to 11 PM across all seven emirates. Our licensed phlebotomists follow ISO‑certified protocols to ensure sample integrity.

UAE Regulatory & Data Privacy Adherence

Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – All genomic data are encrypted, stored on UAE‑based servers, and processed under strict confidentiality agreements.
Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – We comply with electronic health data sharing, consent management, and telemedicine standards.
Federal Decree‑Law No. 4 of 2016 on Medical Liability – Clinical testing safety and patient consent are governed under this framework.
ISO 9001:2015 Certified – Certificate INT/EGQ/2509DA/3139, ensuring international quality management standards.
DHA Facility License: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.

Clinical & Logistical Metadata

Test Name	GNAT2 Gene Sequencing – Achromatopsia Type 4
Price (AED)	2,800
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral Blood (EDTA), FTA Card, or Extracted DNA
Methodology Used	Next‑Generation Sequencing (NGS) – Whole Gene, >100x coverage
ICD-10-CM Code	H53.53 (Monochromatopsia / Achromatopsia)
LOINC Code	99605-8 (GNAT2 gene mutations detected in Blood or Tissue by Molecular genetics method)
DHA Facility License & Address	License #1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE