SH3TC2 Gene (CMT4C) Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

✔Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited next-generation sequencing for the SH3TC2 gene.
✔Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
✔Clinical Guidance: Telephonic post-test clinical guidance for result interpretation provided by a board-certified medical geneticist.
✔Insurance: Direct billing verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The SH3TC2 Gene CMT4C Genetic Test employs next-generation sequencing (NGS) to analyze the entire coding region of the SH3TC2 gene, identifying pathogenic variants associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C). This definitive molecular analysis enables neurologists and geneticists to confirm the diagnosis, guide personalized management, and provide accurate genetic counseling for affected individuals and their families.

Feature	Our Test (NGS)	Conventional Single‑Gene Sequencing
Methodology	Next-generation sequencing (comprehensive gene coverage, including intronic boundaries)	Sanger sequencing (limited to selected exons)
Analytic Sensitivity	99.9% for single-nucleotide variants and small insertions/deletions	~95% (may miss copy-number variants and deep intronic variants)
Result Turnaround	3–4 weeks	4–6 weeks (often requires iterative testing)

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh – Consultant Medical Genetics (DHA Registration ID: 9294403) shares: “Confirming a diagnosis of CMT4C through targeted genetic testing provides clarity for patients and their families. This NGS-based assay delivers comprehensive coverage of the SH3TC2 gene, enabling accurate variant detection and informed reproductive counseling. I encourage patients to discuss the full implications of their results with a qualified genetic specialist.”

Advisory & Pre-Test Considerations

Before Undergoing Testing

Genetic testing for hereditary neuropathy can reveal information that may affect biological relatives. Pre-test genetic counseling is strongly recommended to review the scope of results, the possibility of incidental findings, and the implications for family planning. This test does not replace a comprehensive neurological evaluation.

Exclusion Criteria & Emergency Red Flags

Exclusion Criteria: Minors under 18 without legal guardian consent; inability to provide informed consent; active bleeding disorder contraindicating venipuncture.
Emergency Red Flags – seek immediate care: Sudden severe weakness or paralysis of limbs; difficulty breathing or swallowing; severe muscle cramps with dark urine (possible rhabdomyolysis).

Patient FAQ & Clinical Guidance

1. What is the SH3TC2 Gene CMT4C Genetic Test?

This test uses next-generation sequencing to analyze the SH3TC2 gene for mutations that cause Charcot-Marie-Tooth disease type 4C, an autosomal recessive hereditary neuropathy. Results are typically available within 3–4 weeks and provide a definitive molecular diagnosis to guide clinical management.

2. What sample is required and how should I prepare?

A standard peripheral blood sample is collected via venipuncture. No special preparation is needed, but a detailed medical history and family pedigree are required prior to testing. Our VIP mobile phlebotomy service can collect the sample at your home between 8 AM and 11 PM daily.

3. How will the results impact my family?

A positive result confirms CMT4C, enabling targeted management, family cascade screening, and informed reproductive planning through genetic counseling. A negative result does not exclude all hereditary neuropathies; further evaluation may be warranted based on clinical presentation.

4. Is genetic counseling included with this test?

Telephonic post-test clinical guidance is provided by our consultant medical geneticist to help interpret results. Pre-test genetic counseling is recommended and can be arranged upon request. Direct billing and insurance verification are available via WhatsApp at +971 54 548 8731.

UAE Regulatory & Data Privacy Adherence

Legal & Accreditation Framework

Data Protection: This service complies 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 handled with strict confidentiality and security controls.

Clinical Safety: Patient consent and clinical liability are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.

Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).

Contact Support: WhatsApp & Phone: +971 54 548 8731

Clinical & Logistical Metadata

Test Name	SH3TC2 Gene (CMT4C) Genetic Test – Next-Generation Sequencing
Price (AED)	2,800 AED
Turnaround Time	3–4 weeks
Sample Type / Matrix	Peripheral whole blood (3–5 mL in EDTA tube); VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM – 11 PM.
Methodology Used	Next-generation sequencing (NGS) – comprehensive coding region analysis with intronic boundary coverage
ICD-10-CM Code	G60.0
LOINC Code	81247-0
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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