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Diagnostic options Β· UAE

Pontocerebellar Hypoplasia tests in Dubai & UAE

Compare available Pontocerebellar Hypoplasia tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

Tests in this category

1

Listed price range

2,800.00 AED

Clinical preparation

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Pontocerebellar Hypoplasia test prices

Showing 1–1 of 1 matching tests.

Pontocerebellar Hypoplasia diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-5587
TSEN2 Gene Pontocerebellar Hypoplasia Type 2B Genetic Test

This genetic test identifies mutations in the TSEN2 gene associated with pontocerebellar hypoplasia type 2B.

Whole blood (3–5 mL in EDTA tube), Extracted DNA, or Dried Blood Spot (FTA card) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the TSEN2 gene"]
Parameters
[]
Preparation
["Completed clinical history form", "Mandatory genetic counseling session", "Signed informed consent"]
Indications
["Patients with clinical signs of pontocerebellar hypoplasia", "Molecular confirmation for diagnosis", "Guiding management and prognosis", "Family counseling"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 48018-6 ICD-10: G11.8
Clinical summary
This genetic test identifies mutations in the TSEN2 gene associated with pontocerebellar hypoplasia type 2B.

Category overview

Pontocerebellar Hypoplasia: overview

Navigating severe developmental delays or neurological symptoms in a newborn is incredibly overwhelming, but finding the exact biological cause brings empowering clarity and targeted support. Within our highly specialized Genetics services, testing for Pontocerebellar Hypoplasia (PCH) examines specific genetic mutations that disrupt the normal development of the brain's pons and cerebellum. Utilizing state-of-the-art diagnostic technology, this precise neurodevelopmental screening helps identify rare hereditary conditions, providing your healthcare provider with the definitive data needed to safely guide specialized pediatric neurology care and supportive therapies. Widely respected for compassionate pediatric diagnostics among the best diagnostic labs in the UAE, DNA Labs guarantees absolute patient confidentiality, exceptional diagnostic precision, and rapid, dependable reporting. Find the clear, definitive answers you needβ€”schedule your pontocerebellar hypoplasia testing in UAE, coordinate a secure clinical sample collection, or consult our dedicated neurology specialists.

Before booking

Use the test details as a conversation starter

The right diagnostic option depends on your reason for testing and individual circumstances. Check the listed specimen and timing, then confirm any preparation requirements with the ordering clinician or laboratory before collection.