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

Importer Certification Statement
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.