Test Price
2,800 AED✅ Home Collection Available
SBF2 Gene CMT4B2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
Achieve diagnostic certainty with our ISO 9001:2015 accredited SBF2 gene analysis (LOINC 62342‑6) using Next‑Generation Sequencing for Charcot‑Marie‑Tooth disease type 4B2. Guaranteed >99.9% sensitivity for pathogenic variants across all coding exons and flanking intronic regions. The test includes full gene sequencing, CNV detection via MLPA, and confirmatory Sanger sequencing for all clinically significant findings. Core metrics: 2800 AED all‑inclusive pricing, 21–28 working day turnaround, and post‑test telephonic genetic counselling with a board‑certified Consultant Medical Genetics professional. Direct insurance billing verification via WhatsApp +971 54 548 8731. VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM.
Test Overview & Methodology
The SBF2 Gene CMT4B2 NGS test detects disease‑causing variants in the SBF2 (MTMR13) gene, confirming the molecular diagnosis of autosomal recessive Charcot‑Marie‑Tooth disease type 4B2 (CMT4B2). This targeted next‑generation sequencing analysis aids neurologists and genetic counsellors in definitive diagnosis, family variant tracing, and informed clinical management. The assay covers all 33 coding exons plus minimum 20 bp of flanking intronic sequence, achieving 1000x mean depth with uniform coverage. Clinically significant variants are confirmed by bi‑directional Sanger sequencing. Copy‑number variants (exonic deletions/duplications) are detected using MLPA analysis with orthogonal confirmation.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Test Scope | SBF2 full gene sequencing + CNV analysis (MLPA) | CMT multi‑gene panel (25–50 genes) |
| Methodology | NGS (1000x depth) with Sanger confirmation | NGS panel + optional Sanger fill‑in |
| Turnaround Time | 21–28 working days | 28–42 working days |
| Cost | 2800 AED | 3500–4500 AED (typical) |
Physician Insight & Safety Protocols
“Genetic testing for SBF2‑associated neuropathy provides definitive confirmation of CMT4B2 and enables accurate recurrence risk counselling for families. A negative result does not exclude other CMT subtypes, and correlation with nerve conduction studies remains essential. I advise all patients to attend pre‑test genetic counselling to explore inheritance patterns, implications for at‑risk relatives, and the scope of results before testing.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Safety Protocol
Medication Advisory
Continue all prescribed medications unless explicitly instructed otherwise by your treating physician. Do not adjust or stop any therapy based on test preparation guidelines alone. Inform the phlebotomist if you are taking anticoagulant or antiplatelet medications to allow appropriate site care and pressure application after collection.
Exclusion Criteria & Emergency Red Flags
- Defer blood collection if you have active fever, acute infection, or uncontrolled bleeding disorder.
- Patients on warfarin, rivaroxaban, or similar anticoagulants require medical clearance before phlebotomy.
- Seek emergency care for rapidly progressive limb weakness, sudden dyspnoea, unexplained falls, or syncope.
- This test is not validated for prenatal diagnosis without prior expert genetic consultation.
Patient FAQ & Clinical Guidance
1. What is the SBF2 Gene CMT4B2 NGS test used for?
This test identifies disease‑causing variants in the SBF2 gene to confirm a diagnosis of Charcot‑Marie‑Tooth type 4B2, enabling targeted management and family screening. It directly sequences all exons and flanking regions of the SBF2 gene, detecting point mutations, small indels, and copy‑number variations with 99.9% diagnostic accuracy. Neurologists and geneticists rely on this test to differentiate CMT4B2 from other inherited neuropathies and to counsel at‑risk relatives about recurrence risks and surveillance options.
2. How is the sample collected and what is the turnaround time?
A blood sample (EDTA whole blood), extracted DNA, or a single drop of blood on an FTA card is collected via our ISO‑certified home phlebotomy service or in‑lab; results are ready within 21 to 28 working days, including confirmatory Sanger sequencing and MLPA analysis. The sample is transported under strict cold‑chain conditions, and you receive secure digital results with a clinical interpretation summary. Post‑test telephonic genetic counselling is included to help you understand the implications before discussing with your physician.
3. Who should consider this genetic test?
Individuals with clinical features suggestive of CMT4B2 — including early‑onset distal weakness, foot deformities (pes cavus), areflexia, and nerve conduction studies demonstrating demyelinating neuropathy with focally folded myelin — are appropriate candidates. Family members of a confirmed CMT4B2 proband may pursue targeted variant testing for carrier status or presymptomatic diagnosis. Pre‑test genetic counselling is strongly recommended to clarify personal utility, limitations, and implications for family planning.
4. What do the results mean for family members?
CMT4B2 follows autosomal recessive inheritance. Parents of an affected individual are obligate carriers and have a 25% recurrence risk with each pregnancy. Siblings have a 25% chance of being affected, 50% chance of being carriers, and 25% chance of being unaffected non‑carriers. Cascade testing of at‑risk relatives is recommended after the familial variant is identified. Our genetic counselling team can coordinate family variant testing and discuss prenatal or preimplantation genetic testing options where indicated.
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 at rest and in transit, access‑controlled on a strict need‑to‑know basis, and never shared with third parties without explicit written consent. Clinical testing safety and patient consent protocols adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA‑licensed facility (License No. 1143) operating under ISO 9001:2015 quality management certification (INT/EGQ/2509DA/3139). Patients retain the right to access, correct, and request deletion of their personal data in accordance with PDPL Article 14. For data subject requests, contact our Data Protection Officer via WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | SBF2 Gene CMT4B2 Genetic Test (NGS + MLPA + Sanger Confirmation) |
| Price (AED) | 2800 AED (all‑inclusive, home collection & genetic counselling included) |
| Turnaround Time | 21–28 working days from sample receipt |
| Sample Type / Matrix | EDTA whole blood (3–5 mL), extracted DNA (2 µg minimum), or FTA card blood spot |
| Methodology Used | Next‑Generation Sequencing (NGS) at 1000x depth + MLPA for CNV detection + Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | G60.0 (Hereditary motor and sensory neuropathy) |
| LOINC Code | 62342‑6 (SBF2 gene sequencing) |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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