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Article

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.

Neurology - 16 Feb 2021

Rieken Autumn, Bossler Aaron D, Mathews Katherine D, Moore Steven A

Abstract excerpt

OBJECTIVE: To summarize facioscapulohumeral muscular dystrophy (FSHD) diagnostic testing results from the University of Iowa Molecular Pathology Laboratory. METHODS: All FSHD tests performed in the diagnostic laboratory from January 2015 to July 2019 were retrospectively reviewed. Testing was by restriction enzyme digestion and Southern blot analysis with sequencing of SMCHD1, if indicated. Cases were classified...

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Share to Alleles
Share to Chromosomal Proteins, Non-Histone
Share to Diagnostic Tests, Routine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Muscular Dystrophy, Facioscapulohumeral

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Share to Pathology, Molecular

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Source

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Identifiers

PMID: 33443126
DOI: 10.1212/WNL.0000000000011412
PMCID: PMC8055331

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