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Next generation (whole exome or genome) sequencing for unsolved leukodystrophies
Research Genetic test
Help
offered by
MyeliNeuroGene Lab
GTR Test Accession: Help GTR000552459.1
NERVOUS SYSTEMINHERITED DISEASE
Last updated in GTR: 2016-12-20
View version history
Last annual review date for the lab: 2023-08-07 LinkOut
At a Glance
Conditions (2): Help
Leukodystrophy; Leukoencephalopathy
Genes (1): Help
POLR3A (10q22.3)
Study description: Help
To study the clinical, radiological, molecular and pathophysiological characteristics of …
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
Name: Help
Clinical and Genetic Characterization of New Forms of Leukodystrophies or Related Inherited White Matter Disorders
Study short name: Help
Leuko 11-105-PED
Protocol number: Help
11-105-PED
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
To study the clinical, radiological, molecular and pathophysiological characteristics of leukodystrophies and inherited leukoencephalopathies
Study type: Help
Observational study
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
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 2
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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