Nail-Patella syndrome
Analysis ID 63
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Nail-Patella syndrome
OMIM #161200
Clinical information Nail-patella syndrome is an autosomal dominant disease with symptoms affecting skeletal and genitourinary system system, as well as nails. Additionally, ocular abnormalities such as microcornea, keratoconus, glaucoma, cataract are observed in some patients. Abnormal nails may be observed after birth. The syndrome is caused by the mutations the LMX1B gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes LMX1B
Analysis description Sequencing analysis of the LMX1B gene.
Analysis indication Symptoms of Nail-patella Syndrome
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders