Asper Biotech is a genetic testing company

Vitelliform Macular Dystrophy is an autosomal dominant disorder associated with a vitelliform “egg yolk” lesion that results from abnormal accumulation of lipofuscin in the retinal pigment epithelium (RPE). Lesions are usually bilateral, but can be unilateral. In the early stages, accumulation of lipofuscin-like material in the RPE is observed but acuity remains excellent. Later, the affected area becomes deeply and irregularly pigmented, and as the disorder is progressive, it eventually leads to vision loss. Some cases exhibit multiple extramacular lesions, hemorrhaging, or macular holes. Vitelliform Macular Dystrophy generally reveals itself in childhood or sometimes later during the teenage years. Age of onset and severity of vision loss exhibit inter- and intra-familial variability. Vitelliform macular dystrophy is associated with the BEST1 (VMD2) gene. 

The Vitelliform Macular Dystrophy genetic test has been developed for screening 138 mutations/SNPs from the BEST1 (VMD2) gene.

Genetic testing helps to confirm the diagnosis and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).

Development and validation experiments have been performed in collaboration with Prof. Dr. Bernard Weber and Dr. Britta Fiebig from University of Regensburg (Germany).