GeneDx announces the addition of genetic testing for mutations in the IGHMBP2 gene causing spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is characterized by distal muscle weakness and respiratory failure due to diaphragmatic hernia. Genetic testing for IGHMBP2 mutations can help differentiate SMARD1 from other disorders causing muscle weakness and respiratory distress, thereby providing important information to guide medical management. Additionally, prenatal diagnosis and carrier testing of relatives are available once the mutations in a family have been defined.