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DPAGT1 Sequencing
Research Genetic test
Help
offered by
Neuromuscular Disease Laboratory
GTR Test Accession: Help GTR000521338.1
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2015-02-26
View version history
Last annual review date for the lab: 2015-02-26 Past due LinkOut
At a Glance
Conditions (1): Help
Congenital myasthenic syndrome
Genes (1): Help
DPAGT1 (11q23.3)
Study description: Help
To identify the genetic cause of congenital myasthenia
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Sanger sequencing
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
To identify the genetic cause of congenital myasthenia
Study type: Help
Observational study
Offered by: Help
Neuromuscular Disease Laboratory
Person responsible for the study: Help
Andrew Engel, MD, Lab Director
Study contact: Help
Andrew Engel, MD, Lab Director
Co-investigator: Help
Duygu Selcen, MD, Lab Director
Research contact policy: Help
Health provider contact
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently closed
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 *
Mutation scanning of the entire coding region
Sanger sequencing
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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