Test Price
2,800 AED✅ Home Collection Available
TUBB4A Gene Leukodystrophy Hypomyelinating Type 6 Genetic Test in UAE | 2800 AED | DHA Licensed Molecular Diagnostic
Executive Summary & Core Metrics
Diagnostic Confidence, Delivered with UAE-Compliant Precision
- 99.9% Diagnostic Sensitivity via ISO 15189:2022 accredited NGS workflow and dual independent variant interpretation.
- Hospital-Grade Home Collection — 8 AM to 11 PM VIP mobile phlebotomy with ISO-certified cold-chain transport to our DHA-licensed molecular facility.
- Post-Test Genetic Counseling — Telephonic result interpretation with a DHA-registered Consultant Medical Geneticist, included for all patients.
- Direct Insurance Billing Verification — WhatsApp your Emirates ID and policy number to +971 54 548 8731 for instant pre-approval check.
Test Overview & Methodology
The TUBB4A NGS test detects pathogenic variants in the TUBB4A gene that cause hypomyelinating leukodystrophy type 6 — a rare, progressive white-matter disorder typically presenting in infancy or early childhood with motor delay, ataxia, and spasticity. This single-gene sequencing assay provides definitive molecular confirmation, enabling early therapeutic intervention, precise genetic counseling, and cascade family screening. Our CLIA-validated workflow achieves 30X mean coverage across all coding exons ±10 bp splice sites with orthogonal Sanger confirmation of all pathogenic and likely pathogenic calls.
| Feature | Our TUBB4A NGS Test | Closest Alternative (Research-Use Panel) |
|---|---|---|
| Precision | 99.9% base-calling accuracy with 30X mean coverage across all coding exons ±10 bp splice sites | Variable; often ≤95% coverage for GC-rich exon 1 |
| Methodology | CLIA-validated NGS with orthogonal Sanger confirmation of all pathogenic and likely pathogenic calls | Research-grade NGS, no clinical confirmation step |
| Turnaround Time | 3–4 Weeks (expedited 10-day option available) | 6–8 Weeks |
| Clinical Report | DHA-compliant report with ACMG-based variant classification, clinical correlation, and genetic counseling recommendations | Basic variant list without clinical interpretation |
Physician Insight & Safety Protocols
“A positive TUBB4A result confirms the molecular diagnosis of hypomyelinating leukodystrophy type 6, but thorough clinical correlation with MRI patterns and neurological examination remains indispensable. Mild missense variants may allow survival into adulthood with manageable spasticity, while null alleles typically cause severe infantile-onset disease. This test empowers families with a definitive answer, enabling tailored developmental interventions, anticipatory guidance, and informed reproductive planning. I always emphasize that the result must be interpreted within the full clinical context.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Medication Advisory
Do not stop any prescribed antiepileptic, antispastic, or supportive medication without explicit guidance from your treating neurologist. Sudden withdrawal may provoke seizure recurrence, worsening spasticity, or autonomic instability.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or acute neurological decompensation within the past 48 hours — reschedule collection.
- Inability to collect minimum blood volume (0.5 mL for paediatric patients) despite optimized phlebotomy technique.
- Red flags requiring immediate emergency evaluation: acute onset of coma, status epilepticus, or signs of brain stem compression.
Patient FAQ & Clinical Guidance
1. What does this TUBB4A test reveal about my child's neurological condition?
This NGS test identifies disease-causing mutations in the TUBB4A gene to confirm a molecular diagnosis of hypomyelinating leukodystrophy type 6 and distinguish it from other white-matter disorders such as Pelizaeus-Merzbacher disease. A positive result ends the diagnostic odyssey, allowing your clinical team to tailor supportive therapies, while a negative result may prompt broader genetic testing. The report includes ACMG-based variant classification and specific counseling recommendations.
2. Is home blood collection safe for a child with neurological symptoms?
Yes. Our DHA-certified paediatric phlebotomists use a one-drop FTA card or small-volume venipuncture specifically designed for fragile infants and children with spasticity or movement disorders. The cold-chain transport preserves DNA integrity, and extraction begins within two hours of arrival at our ISO-15189 accredited laboratory. Parents remain with the child throughout the procedure, and we use distraction techniques to minimize discomfort.
3. How should I prepare my child for the blood draw?
Ensure your child is well hydrated in the hours before collection. A topical anaesthetic cream may be applied to the puncture site if prescribed by your paediatrician. Dress your child in loose, accessible clothing. Our mobile phlebotomy team will coordinate with you to select a calm time of day and will bring age-appropriate comfort items to ease the process.
4. What happens after the test is completed and results are ready?
Within 3–4 weeks (or 10 days with the expedited option), you will receive a DHA-compliant clinical report. A telephonic consultation with our Consultant Medical Geneticist is included to explain the results, discuss implications for ongoing care, and coordinate cascade screening for at-risk family members if appropriate. Referrals to paediatric neurology and genetic counselling services are arranged as needed.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights — Fully Protected Under UAE Law
All genetic data generated by this test is handled in strict 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. Patient consent, sample handling, and clinical reporting adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your results are encrypted, access-controlled, and never shared without your explicit written authorization.
DNA Labs UAE maintains ISO 15189:2022 accreditation and operates under DHA Facility License No. 1143. Our laboratory information system is audited annually for compliance with UAE information security standards.
Clinical & Logistical Metadata
| Test Name | TUBB4A Gene Sequencing – Hypomyelinating Leukodystrophy Type 6 (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (expedited 10-day option available) |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA) or Buccal Swab (paediatric alternative). VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | CLIA-validated NGS with 30X mean coverage across all coding exons ±10 bp splice sites; orthogonal Sanger confirmation for all pathogenic and likely pathogenic variants. |
| ICD-10-CM Code | E75.23 |
| LOINC Code | 21665-1 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 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