Norrie disease
Analysis ID 256
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Norrie disease
OMIM #310600
Clinical information Norrie disease is an X-linked recessive disorder characterized by a very early-onset blindness due to the degenerative and proliferative changes of the neuroretina. Approximately 50% patients show some form of progressive mental retardation, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes NDP
Analysis description Sequencing of the entire coding region of the NDP gene
Analysis indication Symptoms of Norrie disease
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics