Laminopathy Testing (LMNA)

Pathogenic variants in LMNA cause laminopathies, a group of disorders associated with a wide spectrum of clinically distinct syndromes including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with pathogenic variants in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This panel includes sequence and deletion/duplication analysis of the LMNA gene.