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Test Price

2,800 AED

โœ… Home Collection Available

TMCO1 Gene Craniofacial Dysmorphism, Skeletal Anomalies & Mental Retardation Syndrome NGS Test in UAE | AED 2800

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).
  • Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance in Result Interpretation by DHA-Licensed Consultant Medical Genetics.
  • Insurance: Direct Billing Verification & Pre-Approval Assistance via WhatsApp: +971 54 548 8731.

Test Overview & Methodology

This Next-Generation Sequencing (NGS) test analyzes the entire coding region of the TMCO1 gene to detect pathogenic variants associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome. Clinicians use it for precise diagnosis, genetic counseling, and management planning.

Feature Our NGS TMCO1 Test Closest Alternative (Sanger Sequencing)
Precision Full gene coverage, variant detection >99.9% Limited to known mutation hotspots
Methodology NGS with bioinformatic confirmation Sanger sequencing, lower throughput
Turnaround Time 3โ€“4 Weeks 6โ€“8 Weeks

Physician Insight & Safety Protocols

From Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): โ€œEvery genetic finding must be correlated with your full clinical picture. This test provides a powerful clue, but only a detailed neurological examination and family history can turn a result into a personalized care plan. I strongly advise against making any medical decisions based solely on a single laboratory report.โ€

Medication Advisory

Important Medication Notice

Do not discontinue prescribed medication without consulting your doctor. Genetic testing does not replace ongoing clinical management.

Patient Exclusion Criteria & Emergency Red Flags

Patient Safety & Exclusion Criteria

  • Exclusion Criteria: Inability to provide informed consent (including guardianship for minors), active untreated psychiatric crisis, or ongoing severe infection that may interfere with sample quality.
  • ER Red Flags: If your child experiences sudden seizures, loss of consciousness, or rapid neurological deterioration, proceed immediately to the nearest emergency department. Do not wait for genetic test results.

Patient FAQ & Clinical Guidance

1. What is the TMCO1 NGS test used for?

This NGS test detects TMCO1 gene mutations linked to craniofacial, skeletal, and intellectual disability syndromes. It helps confirm the clinical diagnosis and guide family planning and targeted interventions.

2. How is the sample collected and what preparation is needed?

A simple blood draw, one drop of blood on an FTA card, or previously extracted DNA is required. You must attend a pre-test genetic counseling session to draw a detailed pedigree chart of affected family members.

3. What is the cost and how do I get results?

The test costs AED 2800, with results available in 3โ€“4 weeks through our secure patient portal. A DHA-licensed consultant medical geneticist will provide a post-test telephonic interpretation session included in the price.

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) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All genetic data is encrypted, access-restricted, and processed exclusively within UAE jurisdiction. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name TMCO1 Gene Craniofacial Dysmorphism, Skeletal Anomalies & Mental Retardation Syndrome NGS Test
Price (AED) 2800
Turnaround Time 3โ€“4 Weeks
Sample Type / Matrix Whole Blood (EDTA), FTA Card Blood Spot, or Extracted DNA
Methodology Used Next-Generation Sequencing (NGS) with Bioinformatic Variant Confirmation
ICD-10-CM Code Q87.8
LOINC Code 102502-1
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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