GTR Home > Tests > SEPN1-Related Myopathy

Overview

Test name

Help

SEPN1-Related Myopathy

Purpose of the test

Help

Contribute to generalizable knowledge

Condition

Help

1condition tested. Click Condition tab for more information.

Methodology

Help
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

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 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.

Researchers

Person responsible for the studyHelpAlan Beggs, PhD, Lab Director
Study contactHelpLindsay Swanson, MS, CGC, Genetic Counselor, lswanson@enders.tch.harvard.edu, 617-919-2169 (phone), 617-730-0786 (fax)

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

Write to the Help Desk