GTR Home > Tests > SEPN1-Related Myopathy


Test name


SEPN1-Related Myopathy

Purpose of the test


Contribute to generalizable knowledge



1condition tested. Click Condition tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)RT-PCR with gel analysis

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Description of study


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 first degree relatives. Participation of affected individuals generally involves providing medical records/information, a blood or saliva sample, and a muscle tissue sample (if available). Participation of relatives involves providing a blood or saliva sample. Referral to a clinical molecular diagnostic laboratory can be arranged for confirmation and reporting of clinically relevant research results.


Person responsible for the studyHelpAlan Beggs, PhD, Lab Director
Study contactHelpLindsay Swanson, MS, CGC, Genetic Counselor,, 617-919-2169 (phone), 617-730-0786 (fax)

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