Test Price
2,800 AED✅ Home Collection Available
TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available Daily 8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance by DHA-Licensed Clinical Geneticists.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Core Metrics: Price 2,800 AED, Turnaround Time 3–4 Weeks, Methodology Targeted NGS with Sanger Validation.
Test Overview & Methodology
The TSEN34 Gene Pontocerebellar Hypoplasia Type 2C NGS Test is a targeted next-generation sequencing analysis that detects pathogenic variants in the TSEN34 gene, causing a rare autosomal recessive neurodegenerative disorder. This comprehensive assay identifies single nucleotide variants, small insertions/deletions, and splice-site mutations, providing definitive molecular confirmation for patients with clinical suspicion of pontocerebellar hypoplasia type 2C (PCH2C) or for carrier screening in families.
| Feature | Our Test (TSEN34 NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Targeted high-depth (>200x) coverage of TSEN34, 99.9% diagnostic sensitivity | Broad but shallow coverage (~100x), may miss TSEN34 deep intronic variants |
| Methodology | NGS with TSEN34-specific panel, Sanger validation, clinically validated bioinformatics (ISO certified) | Whole Exome NGS, often requires reflex single-gene confirmation |
| Turnaround Time | 3–4 Weeks | 6–12 Weeks |
| Price | 2800 AED | 5000 – 8000 AED |
Physician Insight & Safety Protocols
Clinical Correlation Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA License 9294403):
"This targeted NGS test for TSEN34 provides definitive molecular confirmation for suspected pontocerebellar hypoplasia type 2C. However, results must be interpreted alongside brain MRI findings, neurological examination, and family history. A negative result does not exclude other genetic forms of pontocerebellar hypoplasia; comprehensive genetic counseling is strongly recommended. Do not alter any treatment plan based solely on this result without specialist consultation."
Medication Safety Advisory
Do not discontinue any prescribed medication without consulting your treating physician. Abrupt cessation of antiepileptics, muscle relaxants, or neuroprotective agents can precipitate severe neurological worsening.
Safety Exclusion Criteria & ER Red Flags
- Exclusion: Absolute contraindication to venipuncture (severe coagulopathy without medical clearance, no accessible veins after specialist assessment).
- Exclusion: Inability to provide informed consent (patient or legal guardian for minors as per UAE regulations).
- ER Red Flag: New-onset or worsening seizures, apnea, or loss of consciousness before sample collection – seek immediate emergency care, not home phlebotomy.
- ER Red Flag: Severe dehydration or hemodynamic instability – defer elective genetic testing until medically stable.
Patient FAQ & Clinical Guidance
1. What is the TSEN34 gene and its role in pontocerebellar hypoplasia type 2C?
Direct Answer: TSEN34 mutations disrupt tRNA splicing, leading to pontocerebellar hypoplasia type 2C with severe developmental delay. The TSEN34 gene encodes a subunit of the tRNA splicing endonuclease complex, essential for processing transfer RNA in neurons. Biallelic pathogenic variants cause impaired cerebellar and pontine development, resulting in the classic PCH2C phenotype including microcephaly, profound motor dysfunction, and early-onset epilepsy.
2. How is the test performed and what sample is required?
Direct Answer: A single EDTA blood sample or FTA card enables comprehensive TSEN34 gene sequencing via NGS. A DHA-licensed phlebotomist collects 2–5 mL whole blood in EDTA tube or a dried blood spot on FTA card during a 15-minute home visit. The sample is transported in ISO-certified cold chain to our CAP-accredited lab for NGS analysis. Turnaround time is 3–4 weeks from sample receipt.
3. What does the result mean and how is it interpreted?
Direct Answer: A positive result confirms pontocerebellar hypoplasia type 2C, guiding management and family planning decisions. The report details the specific TSEN34 variant(s) with ACMG classification. Negative results may warrant broader genomic testing. All results include telephonic post-test counseling with a clinical geneticist integrated into the service.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information 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 stored securely on UAE-based servers. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM–11 PM |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with Sanger validation |
| ICD-10-CM Code | Q04.3, G31.8, Z13.71 |
| LOINC Code | 81303-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians