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Test Price

2,800 AED

✅ Home Collection Available

TSEN2 Gene Pontocerebellar Hypoplasia Type 2B Genetic Test in UAE | 2800 AED | DNA Labs UAE

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • 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 from a Consultant Medical Geneticist for result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) DHA Licensed Facility 1143

Test Overview & Methodology

TSEN2 gene sequencing identifies pathogenic variants responsible for Type 2B pontocerebellar hypoplasia, a severe neurodegenerative disorder, using high-sensitivity Next Generation Sequencing (NGS) to cover the entire coding region. This test is indicated for patients with clinical signs of pontocerebellar hypoplasia, enabling molecular confirmation and guiding management, prognosis, and family counseling.

Pre-Test Information and Genetic Counseling

A completed clinical history form and a mandatory genetic counseling session to draw a pedigree chart of family members affected by TSEN2-related pontocerebellar hypoplasia type 2B are required before testing. Accepted sample types: whole blood, extracted DNA, or a single drop of blood on an FTA card. Turnaround time is 3 to 4 weeks.

Feature Our Test (NGS) Closest Alternative (Sanger)
Method Next Generation Sequencing (NGS) Sanger Sequencing
Precision >50x average coverage, variant confirmation Single-exon coverage, lower mosaic sensitivity
Turnaround Time 3–4 Weeks 4–6 Weeks
Scope Full coding region & splice sites Targeted single exon only

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist, I emphasize that genetic testing for TSEN2-related pontocerebellar hypoplasia type 2B must be integrated with clinical and imaging findings to ensure accurate diagnosis. This test provides clarity for families and helps guide monitoring and supportive care. Please review results with your referring specialist for comprehensive interpretation.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory: Do Not Alter Medication Without Medical Consultation

⚠️ MEDICAL WARNING: Do not discontinue, modify, or add any prescribed medication without explicit instruction from your treating physician. Genetic test results do not replace ongoing clinical management.

Exclusion Criteria & Emergency Red Flags

  • Individuals who have not undergone genetic counseling or signed informed consent are ineligible for testing.
  • Minors must have written parental or guardian consent as per UAE Personal Data Protection Law (PDPL) and Federal Law No. 2 of 2019.
  • Patients with acute medical instability (e.g., uncontrolled seizures, hemodynamic compromise) should not undergo elective blood collection until stabilized.
  • ER Red Flags: new-onset seizures, loss of consciousness, severe respiratory distress, acute neurological decline, chest pain, or signs of stroke. Seek immediate emergency care.

Patient FAQ & Clinical Guidance

1. What is the purpose of the TSEN2 Gene Pontocerebellar Hypoplasia Type 2B NGS Test?

A: NGS sequencing of TSEN2 detects mutations causing pontocerebellar hypoplasia type 2B, aiding accurate diagnosis. This test is indicated for patients with clinical signs of pontocerebellar hypoplasia, enabling molecular confirmation and guiding management, prognosis, and family counseling.

2. How long does it take to receive results, and what sample is needed?

A: Results are ready in 3–4 weeks from whole blood (3–5 mL in EDTA tube), extracted DNA, or FTA card samples. Samples can be collected via our VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection service or at our facility. Once the laboratory receives the sample, the process runs 3–4 weeks. You will be notified promptly upon report availability.

3. Can children undergo this test, and what are the regulatory requirements?

A: Minors require genetic counseling and parental consent as mandated by UAE Personal Data Protection Law (Federal Decree-Law No. 45 of 2021) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Testing of children is permitted only after a certified genetic counseling session and written consent from a legal guardian.

4. What does the test cost and is insurance accepted?

A: The test price is 2,800 AED. Direct billing verification is available via WhatsApp +971 54 548 8731. We work with major insurers in the UAE; please verify eligibility before the sample collection.

5. Do I need a physician referral for this test?

A: Yes, a physician’s referral is required. The test must be ordered by a qualified medical professional who can interpret the results in the context of the patient’s clinical history and imaging findings. Genetic counseling is mandatory before and after the test.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates under the regulatory framework of the Dubai Health Authority (DHA) and strictly adheres to UAE data protection laws. 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 testing safety and informed consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified and DHA licensed. We ensure that patient information is encrypted, access-controlled, and used solely for diagnostic purposes with explicit consent.

Clinical & Logistical Metadata

Test Name TSEN2 Gene Sequencing for Pontocerebellar Hypoplasia Type 2B
Price (AED) 2800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole blood (3–5 mL in EDTA tube), Extracted DNA, or Dried Blood Spot (FTA card)
Methodology Used Next Generation Sequencing (NGS) with >50x average coverage covering full coding region and splice sites
ICD-10-CM Code G11.8 (Other hereditary ataxias)
LOINC Code 48018-6 (Gene mutation analysis, DNA, NGS)
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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