Vitelliform macular dystrophy, early-onset - RDS gene (peripherin)
Analysis ID 251
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Vitelliform macular dystrophy, early-onset - RDS gene (peripherin)
OMIM #153700
Clinical information Vitelliform macular dystrophy diagnosed upon ophthalmologic assessment is an indication for this testing.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes PRPH2
Analysis description Sequencing of the entire coding region of the PRPH2 gene
Analysis indication Symptoms of vitelliform macular dystrophy
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics