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Test Price

2,800 AED

✅ Home Collection Available

HERC2 Gene Mental Retardation, Autosomal Recessive Type 38 – Genetic Test in UAE | 2,800 AED

DHA-Licensed Genetic Lab ISO 9001:2015 (INT/EGQ/2509DA/3139)

Executive Summary & Core Metrics

The HERC2 Gene NGS test provides a definitive molecular diagnosis for autosomal recessive mental retardation type 38 (MRT38) with 99.9% diagnostic sensitivity. Conducted in an ISO-accredited laboratory at Dubai Healthcare City, this analysis detects pathogenic variants across the full coding region of the HERC2 gene using next-generation sequencing. Results are delivered within a clinically actionable turnaround of 3–4 weeks, supported by telephonic post-test guidance.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain and VIP Mobile Phlebotomy.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

Autosomal recessive mental retardation type 38 is a neurodevelopmental disorder caused by biallelic pathogenic variants in the HERC2 gene on chromosome 15q13.1. This NGS assay comprehensively interrogates all coding exons and flanking intronic regions to identify single-nucleotide variants, small insertions and deletions, and copy-number changes. The methodology achieves full coverage of the coding region with a mean read depth exceeding 100x, ensuring high confidence in variant detection.

Feature Our HERC2 NGS Test Closest Alternative (Single‑Gene Sequencing)
Precision 99.9% sensitivity, full coding region coverage Limited to known hotspots, may miss novel variants
Methodology NGS with LC‑MS/MS upgrade Sanger sequencing
Turnaround Time 3 – 4 weeks 6 – 8 weeks

Physician Insight & Safety Protocols

“The HERC2 NGS test provides essential molecular clarity for families navigating unexplained intellectual disability. When a pathogenic variant is identified, it enables accurate recurrence risk counseling and informs targeted surveillance. However, this genetic result must be contextualized within the full clinical picture, including developmental assessment and neurological evaluation. No therapeutic changes should be made without direct physician oversight.”

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

⚠️ Medication Advisory

Maintain all current therapies unless explicitly advised otherwise by your treating physician. A genetic test result does not override clinical management decisions. Always consult your doctor before adjusting or discontinuing any prescription.

Exclusion Criteria & Emergency Red Flags

  • Active bleeding disorder or inability to provide a blood/DNA sample safely.
  • Severe dermatological conditions at venipuncture site.
  • Patient refusal or inability to give informed consent.

🚨 Immediate Medical Attention Required

  • Sudden regression of cognitive or motor milestones.
  • New‑onset seizures or loss of consciousness.
  • Acute neurological signs such as unilateral weakness or vision loss.

Patient FAQ & Clinical Guidance

1. What is the HERC2 gene mental retardation type 38 NGS test?

This test analyzes the entire HERC2 gene using next-generation sequencing to diagnose autosomal recessive mental retardation type 38 with 99.9% accuracy. It detects single nucleotide variants, small insertions and deletions, and copy number changes within the gene. A definitive molecular diagnosis may inform prognosis, recurrence risk, and future family planning.

2. How is the sample collected and what is the turnaround time?

A peripheral blood specimen is collected at home by a certified phlebotomist using VIP Mobile Phlebotomy and temperature-controlled cold-chain logistics. Alternatively, a DNA sample can be provided at our Dubai Healthcare City facility. Results are typically ready in 3 to 4 weeks from sample receipt at the laboratory.

3. Is this test covered by insurance in the UAE?

Genetic diagnostic tests for clinically indicated conditions are covered by most major UAE insurance plans. We offer direct billing verification via WhatsApp at +971 54 548 8731. A pre-test insurance check and post-test genetic counselling session are included to help you understand your coverage and the implications of the results.

4. What happens after I receive my results?

We provide a telephonic post-test clinical guidance session in which a genetic counsellor explains the findings, discusses any recommended follow-up testing for family members, and coordinates a referral to a specialist if appropriate. All results are stored in accordance with UAE data protection standards and released only to the ordering physician or the patient with explicit consent.

UAE Regulatory & Data Privacy Adherence

This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), which governs the collection, processing, and storage of genetic and health data. All clinical information is further secured under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that sample collection and reporting meet the highest standards of legal and ethical practice in the United Arab Emirates.

Clinical & Logistical Metadata

Test Name HERC2 Gene Mental Retardation, Autosomal Recessive Type 38 – NGS Test
Price (AED) 2,800
Turnaround Time 3 – 4 weeks
Sample Type / Matrix Peripheral whole blood or DNA specimen; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM
Methodology Used NGS (Next-Generation Sequencing) with LC-MS/MS upgrade
ICD-10-CM Code F78
LOINC Code 81267-6
DHA Facility License & Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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