Asper Biotech recently launched a test for Leber hereditary optic neuropathy, or LHON, a disease characterized by optic nerve dysfunction that leads to painless, subacute loss of central vision. It is caused by mutations in mitochondrial DNA and is transmitted by maternal inheritance.
Asper's LHON genetic test can detect all three primary mutations associated with LHON. The test is available as a service that includes DNA extraction, genotyping by array-based primer extension, and data interpretation.
Asper also recently added 13 markers to its array for Alström syndrome. The test surveys the ALMS1 gene for mutations. Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated cardiomyopathy, insulin resistance syndrome, developmental delay, and progressive hepatic and renal dysfunction. The syndrome is rare. According to Alström Syndrome International, about 800 cases of Alström syndrome have been identified worldwide.