Ocular Genetics

DESCRIPTION – ocular genetics enhances mutual understanding and communication between ophthalmologists, clinical and molecular geneticists, as well as genetic counselors. Many patients with GED have complex needs and their sight problems may be one of a range of symptoms they experience as a result of their genetic condition

COMPONENT – corneal dystrophies, albinism, Norrie disease, retinoschisis, choroideremia, inherited retinal degenerative disease, inherited optic neuropathies, color vision deficiencies, retinoblastoma, anterior segment dysgenesis, aniridia, anophthalamos, coloboma, cataract, keratoconus, fuchs-endothelial corneal dystrophy, age related macular degeneration, glaucoma, pseudo-exfoliation syndrome, diabetic retinopathy

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME – 21 days

PATIENT PREPARATION –

COLLECT – lavender (EDTA), pink (potassium EDTA)

SPECIMEN PREPARATION – transport 5 ml of whole blood or 2 micro-gram extracted DNA

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

UNACCEPTABLE CONDITION – frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory