Classic view of this page
Multiminicore Disease
Research Genetic test
Help
offered by
Beggs Laboratory - Congenital Myopathy Research Program
View lab's test page
LinkOut
GTR Test Accession: Help GTR000016542.2
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2015-12-02
View version history
Last annual review date for the lab: 2023-12-07 LinkOut
At a Glance
Conditions (1): Help
Multiminicore myopathy
Genes (2): Help
RYR1 (19q13.2); SELENON (1p36.11)
Study description: Help
Study of the congenital myopathies, including nemaline myopathy, centronuclear/myotubular myopathy, …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (3): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS); RT-PCR with gel analysis
Study Description
Name: Help
Beggs Laboratory Congenital Myopathy Research Program
Study short name: Help
Beggs Lab
ClinicalTrials.gov identifier: Help
NCT00272883
Protocol number: Help
03-08-128R
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Study of the congenital myopathies, including nemaline myopathy, centronuclear/myotubular myopathy, multiminicore myopathy/rigid spine muscular dystrophy, and undefined or nonspecific congenital myopathies. Focus on identifying the genes and proteins involved in these conditions, as well as in normal muscle functioning. Seek participation of families with congenital myopathies, including affected individuals and … View more
Study type: Help
Observational study
Offered by: Help
Beggs Laboratory - Congenital Myopathy Research Program
Person responsible for the study: Help
Alan Beggs, PhD, Lab Director
Study contact: Help
Casie Genetti, MS, Certified Genetic counselor, CGC, Genetic Counselor
Research contact policy: Help
Laboratory welcomes contact from clinicians and patients/families interested in participating in a research study for this condition.
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: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
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)
Sequence analysis of the entire coding region
RT-PCR with gel analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.