ERCC4 Gene Fanconi Anemia Complementation Group Q Genetic Test | DHA Licensed | DNA Labs UAE

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified 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) across all UAE emirates.
Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation with a DHA‑licensed genetic counselor.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This advanced genetic test screens for mutations in the ERCC4 gene associated with Fanconi Anemia complementation group Q (FANCQ), a rare autosomal recessive bone marrow failure syndrome with increased cancer risk. Next‑Generation Sequencing (NGS) provides full coverage of the ERCC4 coding region and splice sites, achieving a diagnostic sensitivity of 99.9% for pathogenic variants.

Feature	Our NGS‑Based Test	Chromosome Breakage (DEB) Test
Technology	Next‑Generation Sequencing (Full Gene Coverage)	Diepoxybutane (DEB)‑Induced Chromosome Fragility
Detection Power	Identifies specific pathogenic variants in ERCC4	Measures cellular sensitivity to cross‑linking agents
Turnaround Time	3 – 4 Weeks	2 – 3 Weeks (non‑molecular)
Clinical Utility	Confirms complementation group, enables carrier testing & pre‑implantation diagnosis	Screening tool, cannot distinguish subgroups

Physician Insight & Safety Protocols

“As a DHA‑licensed Consultant in Medical Genetics, I emphasize that genetic testing for Fanconi anemia complementation group Q requires comprehensive clinical correlation. This test provides precise molecular confirmation, guiding personalized surveillance and family counseling. It is not a substitute for a full clinical evaluation.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory & Safety Recommendations

Do not discontinue any prescribed medications without consulting your physician. This test does not replace clinical monitoring. Inform your doctor about all medications and supplements. Always maintain regular follow‑up with your hematologist or genetic specialist.

Exclusion Criteria & Red Flags

This test is contraindicated in patients with acute infections or recent blood transfusions (<2 weeks) that may compromise DNA integrity.
If the patient has undergone bone marrow transplant, chimerism analysis may be required instead of this test.
Immediate medical attention is required for sudden bruising, petechiae, pallor, fever, or unexplained fatigue.

Patient FAQ & Clinical Guidance

1. What does a positive ERCC4 mutation result mean?

Answer: A positive result confirms the presence of a disease‑causing mutation in the ERCC4 gene, diagnosing Fanconi anemia complementation group Q. This enables tailored surveillance for bone marrow failure, cancer risk management, and family carrier testing.

2. How is the sample collected?

Answer: Samples are collected via a standard peripheral blood draw or buccal swab. Our ISO‑certified VIP Mobile Phlebotomy and temperature‑controlled cold‑chain home collection service operates daily from 8 AM to 11 PM across all UAE emirates. Hospital visits are also available upon request.

3. What are the genetic implications for family members?

Answer: Fanconi anemia is an autosomal recessive disorder. Siblings of an affected individual have a 25% risk of being affected, 50% risk of being carriers, and 25% chance of being unaffected non‑carriers. Carrier testing and genetic counseling are strongly recommended for at‑risk relatives, especially for reproductive planning.

UAE Regulatory & Data Privacy Adherence

Compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genetic data privacy.
Compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
ISO 9001:2015 Certified Laboratory (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name	ERCC4 Gene Fanconi Anemia Complementation Group Q Genetic Test
Price (AED)	2,800 AED
Turnaround Time	3–4 Weeks
Sample Type / Matrix	Peripheral Blood or Buccal Swab
Methodology Used	Next‑Generation Sequencing (NGS) – Full Gene Coverage
ICD-10-CM Code	D61.09
LOINC Code	81247-9
DHA Facility License & Address	DHA License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE