Stargardt macular degeneration
Analysis ID 167
Analysis location Collaboration with another facility
Diagnosed illness Stargardt macular degeneration
Clinical information Stargardt macular degeneration is a genetic eye disorder that involves progressive vision loss. This disease affects the retina, in particular macula, which is responsible for the central vision. In most patients with Stargardt macular degeneration, a fatty yellowish pigment (lipofuscin) is deposited in the cells underlying macula. Over time, the abnormal accumulation of this substance can damage the macular cells. In addition to central vision loss, people with Stargardt macular degeneration have difficulties with night vision. Some affected individuals also have impaired vision of color. The symptoms of Stargardt macular degeneration typically appear in late childhood or early adulthood and progress with time.
Type of analysis Microarray
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes ABCR (ABCA4)
Analysis description Analysis consists of 519 mutations in the ABCR (ABCA4) gene tested with microarray technology
Analysis indication Symptoms of Stargardt macular degeneration
Analysis time Appointed individually
Refund No
CGM laboratory name