GTR Home > Tests > Pontocerebellar Hypoplasia Types 2 Type 4 and Type5 via the TSEN54 Gene


Test order codeHelp: 298

Test name


Pontocerebellar Hypoplasia Types 2 Type 4 and Type5 via the TSEN54 Gene

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



3 conditions tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity


Not provided

Clinical utility


Not provided

How to order


Please visit Lab web site for detail
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 298
  • Custom Deletion/Duplication Testing, Order code: 600
  • Custom Prenatal Testing, Order code: 990
  • Custom mutation-specific/Carrier testing, Order code: 298

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk