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Test Price

2,800 AED

✅ Home Collection Available

Comprehensive GJC2 Gene Hypomyelinating Leukodystrophy Genetic Test in UAE | 2800 AED | DNA Labs UAE

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited 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: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed Consultant Medical Genetics specialist.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

This next-generation sequencing (NGS) test analyses the entire coding region of the GJC2 gene to detect pathogenic variants responsible for hypomyelinating leukodystrophy, also known as Pelizaeus‑Merzbacher‑like disease type 1. The assay provides precise molecular confirmation, enabling accurate disease classification, targeted clinical management, and informed family genetic counseling. All sequencing is performed on ISO‑accredited platforms with redundant coverage to ensure analytical sensitivity exceeding 99.9%.

Feature Our Test (NGS) Sanger Sequencing (Alternative)
Methodology Next‑Generation Sequencing (full gene coverage with redundant reads) Sanger Sequencing (one amplicon at a time)
Analytical Sensitivity 99.9% ~99.5% per amplicon
Turnaround Time 21–28 days 28–42 days
Home Collection Yes, UAE‑wide via VIP Mobile Phlebotomy Limited or unavailable

Physician Insight & Safety Protocols

"As a Consultant Medical Genetics specialist, I recognize the profound impact a confirmed leukodystrophy diagnosis has on patients and their families. This NGS assay provides high-confidence detection of GJC2 pathogenic variants, yet results must always be integrated with cranial MRI patterns and a thorough neurological examination. A negative result does not eliminate other genetic or acquired leukodystrophies; therefore, continued specialist follow‑up remains essential for comprehensive care."

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory – Do Not Alter Prescribed Therapy

Do not discontinue or adjust any prescribed medication without consulting your treating physician. This genetic test is a diagnostic tool and does not replace ongoing clinical management or emergency care.

Exclusion Criteria & Emergency Red Flags

  • Patient has received a blood transfusion within the last 90 days (may compromise germline DNA purity).
  • Sample collected using an expired or damaged FTA card.
  • Inability to provide written informed consent; for minors, legal guardian signature is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Seek immediate emergency care if the patient experiences acute neurological decline, new‑onset seizures, loss of consciousness, or breathing difficulties.

Patient FAQ & Clinical Guidance

1. What does the GJC2 gene genetic test detect?

This DNA test identifies pathogenic variants in the GJC2 gene, confirming a diagnosis of hypomyelinating leukodystrophy (Pelizaeus‑Merzbacher‑like disease type 1). The assay covers all coding exons and flanking intron‑exon boundaries. A positive result enables precise disease classification and informed genetic counseling for family members. A negative result directs further investigation toward other leukodystrophy genes or non‑genetic causes. All reports are reviewed by a DHA‑licensed Consultant Medical Genetics specialist.

2. How is the sample collected for this genetic analysis?

A DHA‑certified phlebotomist collects a peripheral blood sample via standard venipuncture or a dried blood spot on an FTA card during a scheduled VIP Mobile Phlebotomy visit. Appointments are available daily from 8 AM to 11 PM across all UAE emirates. The specimen is transported in a validated temperature‑controlled cold‑chain system to our ISO‑accredited laboratory. Pre‑extracted DNA may also be submitted.

3. When will I receive my results and how are they interpreted?

Results are delivered within 21–28 days from sample receipt. The final report includes the molecular findings, an interpretation aligned with ICD‑10‑CM and LOINC clinical coding standards, and evidence‑based recommendations. A telephonic consultation with our Consultant Medical Genetics specialist is provided to discuss the implications and next steps. Expedited reporting is available upon medical justification.

UAE Regulatory & Data Privacy Adherence

All patient data and genetic results are processed and stored in full compliance 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. Informed consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License Number 1143 and maintains ISO 9001:2015 certification for quality management systems.

Clinical & Logistical Metadata

Test Name GJC2 Gene Hypomyelinating Leukodystrophy Genetic Test (NGS)
Price (AED) 2,800 AED
Turnaround Time 21–28 days
Sample Type / Matrix Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card)
Methodology Used Next‑Generation Sequencing (NGS) – Full coding region coverage with bidirectional Sanger confirmation of pathogenic variants
ICD-10-CM Code G37.8
LOINC Code 81247-9
DHA Facility License & Laboratory Address DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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