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POLR3-related (4H) leukodystrophy
Research Genetic test
Help
offered by
MyeliNeuroGene Lab
GTR Test Accession: Help GTR000500812.4
NERVOUS SYSTEMINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2016-01-19
View version history
Last annual review date for the lab: 2024-08-08 LinkOut
At a Glance
Conditions (3): Help
POLR3-related leukodystrophy; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Genes (3): Help
POLR1C (6p21.1); POLR3A (10q22.3); POLR3B (12q23.3)
Study description: Help
Genetic and clinical description of novel leukodystrophies and inherited white …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Suspicion of POLR3-related leukdoystrophy Molecularly unsolved leukodystrophy
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Clinical, radiological, molecular, and epidemiological features of leukodystrophies in Canada: a prospective observational study
Protocol number: Help
11-105-PED
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Genetic and clinical description of novel leukodystrophies and inherited white matter disorders, including POLR3-related leukodystrophy
Study type: Help
Not applicable
Offered by: Help
MyeliNeuroGene Lab
Person responsible for the study: Help
Genevieve Bernard, MD, MSc, Lab Director
Study contact: Help
Genevieve Bernard, MD, MSc, Lab Director
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Suspicion of POLR3-related leukdoystrophy Molecularly unsolved leukodystrophy
Recruiting sites: Help
Montreal Children's Hospital McGill University Health Center - Research Institute
Consent form: Help
Consent Form
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
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
Practice guidelines:
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