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Facioscapulohumeral Dystrophy (FSHD)

FSHD Testing

Optical Mapping for 4q35 deletion detection and 4qA/4qB haplotyping
D4Z4 methylation testing
SMCHD1 sequencing

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FSHD1 and FSHD2 International Requisition
FSHD1 and FSHD2 Requisition
Prenatal FSHD Testing Requisition

 

Iowa Publications
CLIA laboratory genetic testing of facioscapulohumeral muscular dystrophy: a retrospective analysis. Rieken A, Bossler AD, Mathews KD, Moore SA. Neurology 96(7):e1054-e1062, 2021.   
 
Validation of optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD). Stence AA, Thomason JG, Pruessner JA, Sompallae RR, Snow AN, Ma D, Moore SA, D Bossler AD.   J Molecular Diagnostics 23:1506-1514, 2021.