Test Price
2,800 AED✅ Home Collection Available
TSEN34 Gene Pontocerebellar Hypoplasia Type 2C Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين TSEN34 لضمور المخيخ الجسري النوع 2C في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | ملخص تنفيذي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed clinical geneticists and neurologists.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي: فحص جيني متطور عبر التسلسل الجيني من الجيل التالي (NGS) لجين TSEN34، يُستخدم لتشخيص ضمور المخيخ الجسري من النوع 2C بدقة تصل إلى 99.9%. نقدم خدمة جمع عينات منزلية على مستوى المستشفيات مع استشارة وراثية بعد الفحص. السعر 2800 درهم إماراتي، ومدة النتائج 3-4 أسابيع. الامتثال الكامل للقانون الاتحادي رقم 41 لسنة 2024 ومعايير هيئة الصحة بدبي.
Overview
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. يفحص هذا التحليل الطفرات الجينية المسببة لضمور المخيخ الجسري من النوع 2C بدقة عالية.
| 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 Protocol
Clinical Correlation Note from Dr. PRABHAKAR REDDY (DHA License: 61713011): “This genetic test is a powerful diagnostic tool, but it must be interpreted alongside brain MRI findings, neurological examination, and detailed family history. A negative result does not exclude other genetic forms of pontocerebellar hypoplasia; further genetic counseling is recommended. Please do not alter any treatment plan based solely on this result without specialist consultation.”
⛔ Medication Warning
Do not discontinue any prescribed medication without consulting your treating physician. Abrupt cessation of anti-epileptics, 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 CDS Law 2026).
- 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.
إجابة مباشرة: تؤدي طفرات جين TSEN34 إلى تعطيل تضفير الحمض النووي الريبي الناقل، مما يُسبب ضمور المخيخ الجسري من النوع 2C المصحوب بتأخر شديد في النمو.
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. We collect 2–5 mL whole blood in EDTA tube, extracted DNA, or a dried blood spot on FTA card during a 15-minute home visit by a DHA-licensed phlebotomist. The sample is transported in ISO-certified cold chain to our CAP-accredited lab for NGS analysis.
إجابة مباشرة: تُمكّن عينة دم واحدة محفوظة في أنبوب EDTA أو بطاقة FTA من إجراء تسلسل شامل لجين TSEN34 باستخدام تقنية الجيل التالي.
3. What does the result mean and how long does it take?
Direct Answer: A positive result confirms pontocerebellar hypoplasia type 2C, guiding management and family planning decisions. Turnaround time is 3–4 weeks from sample receipt. A positive report details the specific TSEN34 variant(s) and its ACMG classification; negative results may warrant broader genomic testing. All interpretations include telephonic post- counseling with a clinical geneticist.
إجابة مباشرة: تؤكد النتيجة الإيجابية تشخيص ضمور المخيخ الجسري من النوع 2C، مما يوجه خطة العلاج واستشارات تنظيم الأسرة.
UAE Regulatory Compliance: This service adheres to Federal Decree-Law No. 41 of 2024 (Art. 87) on medical liability, the UAE PDPL for patient data privacy, and the 2026 Clinical Diagnostic Services (CDS) Law regarding testing of minors – requiring mandatory genetic counseling and guardian consent. All genetic data is stored securely on UAE-based servers.
Medical Codes & Identifiers: 2026 ICD-10-CM: Q04.3 (Congenital pontocerebellar hypoplasia), G31.8 (Other specified degenerative diseases of the nervous system), Z13.71 (Encounter for screening for genetic disorders). LOINC: 81303-9 (TSEN34 gene targeted mutation analysis).
Facility License: 9834453 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)
Contact & Support: WhatsApp +971 54 548 8731 | Support Phone: +971545488731
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