Test Price
2,800 AED✅ Home Collection Available
TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- 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 with a DHA-Licensed Genetic Counsellor for Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731. Pre-authorization support for major UAE insurers.
Test Overview & Methodology
The TSEN54 NGS test sequences the entire coding region of the TSEN54 gene to detect pathogenic variants associated with Pontocerebellar Hypoplasia Type 4 (PCH4) – a severe autosomal recessive neurodevelopmental disorder marked by microcephaly, profound motor and cognitive impairment, and brainstem/cerebellar malformations. This next‑generation sequencing analysis offers near‑exhaustive variant detection, enabling early diagnosis, carrier screening, and informed reproductive planning in accordance with UAE genetic counselling guidelines.
| Parameter | Our Test | Alternative (Single‑Gene PCR) |
|---|---|---|
| Precision | Full gene sequencing (coding exons ±10 bp intronic boundaries), ≥100× depth | Targeted mutation panel, limited to known founder variants |
| Methodology | Illumina Next‑Generation Sequencing + Sanger confirmation | Allele‑specific PCR or Sanger sequencing of selected exons |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA ID: 9294403: “Comprehensive TSEN54 gene sequencing provides a definitive molecular diagnosis for suspected Pontocerebellar Hypoplasia Type 4, allowing clinicians to correlate genotype with phenotype in affected infants. The results must always be interpreted alongside neuroradiological findings and a complete clinical assessment. A negative result does not rule out all genetic etiologies of cerebellar hypoplasia; additional gene panel testing may be indicated.”
Medication Advisory
Patients receiving anticonvulsant therapy, muscle relaxants, or any prescribed neurological medication must continue their regimen exactly as directed by their treating physician. Genetic testing does not alter medication protocols. Any adjustment to pharmacotherapy requires explicit written instruction from the managing specialist.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Severe haemodynamic instability, inability to safely provide a venous blood sample, or a recent (<2 weeks) whole blood transfusion that could introduce donor DNA.
- ER Red Flags: Sudden onset of apnoeic episodes, status epilepticus, acute worsening of feeding difficulties, or any sign of brainstem herniation. Seek immediate emergency medical attention if these occur.
Patient FAQ & Clinical Guidance
1. What is the TSEN54 gene test used for?
Snippet Answer: The TSEN54 test detects mutations causing Pontocerebellar Hypoplasia Type 4, a severe genetic brain malformation syndrome, enabling definitive diagnosis and family risk assessment.
This next‑generation sequencing analysis reads the entire TSEN54 gene, identifying both known and novel pathogenic variants. In the UAE, it is typically ordered by paediatric neurologists or clinical geneticists when clinical features (microcephaly, hypertonia, chorea) and MRI findings suggest PCH4. Results guide prognosis, therapy, and reproductive options.
2. How is the sample collected for this genetic test?
Snippet Answer: A standard blood draw, one drop of blood on an FTA card, or already extracted DNA can be used, collected via our VIP home phlebotomy service.
Our DHA‑approved mobile team will visit your home, clinic, or hospital between 8 AM and 11 PM using sterile, cold‑chain transport. For infants, a single drop of blood on an FTA card is often sufficient, minimizing discomfort. Pre‑genetic counselling is provided to explain the procedure and obtain a family pedigree. A consenting parent or legal guardian must be present for minors.
3. How long does it take to receive results?
Snippet Answer: The turnaround time is 3 to 4 weeks from sample receipt, including sequencing, bioinformatic analysis, and double‑checking by a clinical molecular geneticist.
While the laboratory processing itself takes about 10–14 days, the additional time accounts for thorough variant interpretation using the latest clinical databases, Sanger validation, and multidisciplinary sign‑off. Results are delivered via a secure encrypted PDF with a pre‑scheduled tele‑consultation. Urgent requests for symptomatic patients can be expedited by calling +971 54 548 8731.
4. Who should consider this genetic test?
Snippet Answer: Infants with clinical suspicion of pontocerebellar hypoplasia, couples with a family history of PCH4, and individuals seeking carrier screening for autosomal recessive disorders.
In the UAE, consanguineous families are at increased risk for rare autosomal recessive conditions. Carrier testing for parents and prenatal diagnosis for at‑risk pregnancies are available following confirmed familial mutations. Post‑test genetic counselling is mandatory and included in the service.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is processed and stored in 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 & Consent: Patient safety and informed consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) with rigorous internal quality controls.
- Home Collection: VIP Mobile Phlebotomy services operate under DHA permit and follow strict cold-chain logistics for specimen integrity.
Clinical & Logistical Metadata
| Test Name | TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, FTA Card, or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q04.8 (Other specified congenital malformations of brain) |
| LOINC Code | 94222-4 (TSEN54 gene mutation analysis) |
| 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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