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Test Price

2,800 AED

✅ Home Collection Available

TMCO1 Gene Sequencing (NGS) Test in UAE – 2,800 AED – DHA Licensed Molecular Diagnostics

Executive Summary & Core Metrics

A definitive molecular genetic test employing next‑generation sequencing (NGS) of the entire TMCO1 coding region to identify pathogenic variants underlying craniofacial dysmorphism, skeletal anomalies, and intellectual disability. Offered by DNA Labs UAE under DHA Facility License 1143, with 99.9% diagnostic sensitivity via ISO‑accredited workflow and integrated post‑test clinical counselling.

Diagnostic Accuracy

99.9% sensitivity – full gene sequencing with CNV detection

Logistics Standard

VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection

Post‑Test Support

Telephonic genetic counselling by Consultant Medical Genetics

Insurance Coverage

Direct billing verification via WhatsApp +971 54 548 8731

Test Overview & Methodology

The TMCO1 Gene Sequencing (NGS) Test interrogates all coding exons and flanking intronic regions of the TMCO1 gene using an Illumina® platform paired‑end chemistry. Bioinformatic pipeline detects single‑nucleotide variants, insertions/deletions, and copy‑number aberrations with a depth of coverage ≥100×. The test provides molecular confirmation for suspected syndromic presentations, enabling targeted surveillance, surgical planning for craniofacial anomalies, and informed family counselling.

Feature DNA Labs UAE – TMCO1 NGS Test Alternative Targeted Panels
Precision Full gene sequencing with 99.9% sensitivity; CNV analysis included Restricted to known hotspots; ~85% sensitivity
Methodology NGS (Illumina®) with integrated bioinformatic CNV calling Sanger sequencing or PCR‑based assays only
Turnaround & Support 21–28 days with clinical interpretation and genetic counselling 30–60 days; post‑test counselling often absent

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh – Consultant Medical Genetics (DHA Registration ID: 9294403): “TMCO1‑related disorder is a rare but clinically impactful syndrome. NGS‑based confirmation provides the molecular anchor needed to differentiate it from other craniofacial‑skeletal‑intellectual disability syndromes. I strongly recommend pre‑test genetic counselling to discuss variant classification, recurrence risks, and long‑term neurodevelopmental surveillance. A multidisciplinary approach — involving genetics, craniofacial surgery, orthopaedics, and developmental paediatrics — is essential after a positive result.”

Pre‑Test Advisory

This genetic test provides diagnostic information only. It does not substitute for ongoing medical management. Patients should continue all prescribed therapies — including antiepileptics, psychotropics, and supportive interventions — unless explicitly modified by their treating physician. Abrupt cessation of medication may lead to clinical deterioration.

Exclusion Criteria & Urgent Red Flags

  • Sample Rejection: Haemolysed, clotted, or insufficient blood volume; FTA card with visible degradation; DNA A260/A280 ratio outside 1.8–2.0.
  • Pre‑analytical Interference: Active febrile illness or blood transfusion within three weeks may compromise DNA integrity.
  • Emergency Warning: Acute neurological decline, new‑onset seizures, or airway compromise from craniofacial abnormalities requires immediate emergency department evaluation — not a laboratory appointment.
  • Consent Requirements: Testing of individuals under 18 years requires written consent from a legal guardian, consistent with UAE federal regulations.

Patient FAQ & Clinical Guidance

1. What does a positive TMCO1 NGS result mean for my child’s development?

A confirmed pathogenic TMCO1 variant enables clinicians to anticipate craniofacial growth challenges, skeletal abnormalities, and the trajectory of intellectual disability. Early intervention — including speech therapy, orthopaedic monitoring, and educational support — can be initiated proactively to optimise long‑term outcomes.

2. How is the home collection performed and is the sample safe during transport?

A DHA‑licensed phlebotomist collects whole blood (EDTA) or saliva (Oragene®) at your residence. The specimen is immediately placed in a validated temperature‑controlled container (2–8 °C) and transported via certified courier to our ISO‑accredited laboratory. Cold‑chain integrity is monitored throughout to guarantee DNA quality.

3. Will my health insurance cover the test and when will I receive results?

Most UAE health insurance plans reimburse genetic testing when supported by a medical necessity letter. DNA Labs UAE verifies coverage directly with your insurer via WhatsApp (+971 54 548 8731). Results are delivered within 21–28 days and include a comprehensive report with variant classification and a post‑result telephone consultation with a genetic counsellor.

4. Can other family members be tested based on my child’s result?

Yes. Once a pathogenic variant is identified in the proband, targeted cascade testing for parents and at‑risk relatives can be arranged. This informs recurrence risk, reproductive planning, and presymptomatic surveillance for family members. Genetic counselling is mandatory before any predictive testing.

UAE Regulatory & Data Privacy Adherence

This laboratory and its clinical workflows operate in full compliance with:

  • Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – safeguarding all patient genetic and health data.
  • Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing telemedicine, digital records, and electronic reporting.
  • Federal Decree‑Law No. 4 of 2016 on Medical Liability – ensuring clinical safety, informed consent, and professional accountability.

ISO 9001:2015 Certified | Cert: INT/EGQ/2509DA/3139 | DHA Facility License: 1143 | Corporate Lab: DNA Labs UAE

Cold‑chain logistics validated per ISO 15189:2022 standards. All genetic counselling sessions are documented and stored in accordance with PDPL retention policies.

Clinical & Logistical Metadata

Test Name TMCO1 Gene Sequencing (NGS)
Price (AED) 2,800
Turnaround Time 21–28 Days
Sample Type / Matrix Whole Blood (EDTA) or Saliva (Oragene®) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM – 11 PM)
Methodology Used Next‑Generation Sequencing (Illumina®) with CNV Detection – ≥100× coverage, ISO‑accredited pipeline
ICD-10-CM Code Q87.8, Q87.0, Q75.8
LOINC Code 94222-5
DHA Facility License & Address License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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All reports reviewed by DHA-Certified physicians