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Pontocerebellar Hypoplasia Type 1A
Research Genetic test
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offered by
Gleeson Lab
GTR Test Accession: Help GTR000325615.5
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-01-22
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Last annual review date for the lab: 2022-01-24 Past due LinkOut
At a Glance
Conditions (1): Help
Congenital pontocerebellar hypoplasia type 1
Genes (1): Help
VRK1 (14q32.2)
Study description: Help
The Gleeson lab is seeking patients in order to identify …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
The Gleeson lab is seeking patients in order to identify new genes responsible for Pontocerebellar Hypoplasia using a combination of approaches. We carry out research to further understand the functional role of these genes during development. Please use the above link to our website for a detailed description.
View citations (1)
  • Millen KJ, Gleeson JG. Cerebellar development and disease. Curr Opin Neurobiol. 2008;18(1):12-9. doi:10.1016/j.conb.2008.05.010. Epub 2008 May 29. PMID: 18513948.
Offered by: Help
Gleeson Lab
Person responsible for the study: Help
Joseph Gleeson, MD, Lab Director
Study contact: Help
Joseph Gleeson, MD, Lab Director
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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