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Test Price

2,800 AED

✅ Home Collection Available

RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

This advanced genetic test delivers comprehensive analysis of the RTTN gene responsible for microcephaly, short stature, and polymicrogyria with seizures, achieving 99.9% diagnostic sensitivity through ISO-accredited next-generation sequencing. The service includes premium home collection logistics and post-test clinical guidance.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The RTTN Gene NGS Test analyzes the entire coding region of the RTTN gene using Next-Generation Sequencing to identify pathogenic variants associated with microcephaly, short stature, and polymicrogyria with seizures. This test serves as a critical diagnostic tool for pediatric neurologists and clinical geneticists in the UAE, enabling precise molecular diagnosis and informed genetic counseling.

Feature Our Test (RTTN NGS) Alternative (Sanger Sequencing)
Methodology Next-Generation Sequencing (NGS) Sanger Sequencing (single-gene)
Detection Scope Full gene coverage (exons, splice sites) Limited to targeted regions
Turnaround Time 3–4 Weeks 6–8 Weeks
Precision 99.9% analytical sensitivity ~99.0%

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I have witnessed how a definitive molecular diagnosis for RTTN-related disorders empowers families with precise genetic counseling and targeted management strategies. This NGS-based test provides comprehensive coverage of the RTTN gene, enabling detection of pathogenic variants that cause microcephaly, short stature, and polymicrogyria with seizures. It is crucial to pair this test with pre- and post-test genetic counseling. A negative result does not rule out a genetic etiology and may warrant broader genomic investigation.”

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

Advisory Notice

Do not discontinue prescribed anti-seizure or other medications without consulting your treating physician. This genetic test is not a substitute for emergency medical care.

Exclusion Criteria & ER Red Flags

  • Patients with severe sepsis or acute illness requiring urgent medical intervention.
  • Individuals unable to provide informed consent or unwilling to undergo formal genetic counseling.
  • Red Flags: Sudden worsening of seizures, loss of consciousness, or respiratory distress — seek immediate emergency care before scheduling this test.

Patient FAQ & Clinical Guidance

1. What is the RTTN gene test, and why is it recommended?

The RTTN gene NGS test screens for pathogenic variants in the RTTN gene causing microcephaly, short stature, and polymicrogyria with seizures. It is recommended for pediatric patients presenting with these symptoms to establish a definitive molecular diagnosis, inform prognosis, and enable early developmental interventions and genetic counseling for the family.

2. How is the test performed, and what sample is needed?

A simple blood sample or buccal swab is collected by our trained phlebotomist during a home visit, minimizing discomfort for the child. The procedure is quick, safe, and transported under strict temperature-controlled cold-chain protocols to our ISO-accredited laboratory.

3. What is the turnaround time, and how will I receive results?

Results are typically ready within 3 to 4 weeks from specimen receipt. A detailed genetic report is provided, and post-test clinical guidance is offered via teleconsultation to help interpret the findings and discuss next steps for management.

UAE Regulatory & Data Privacy Adherence

This 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is handled with strict confidentiality and explicit patient consent. Laboratory accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures Genetic Test (NGS)
Price (AED) 2,800
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood or Buccal Swab
Methodology Used Next-Generation Sequencing (NGS)
ICD-10-CM Code Q02, Q04.3, E34.3, R56.9
LOINC Code 21775-6
DHA Facility License & Laboratory Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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