Holt-Oram Syndrome
Analysis ID 92
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Holt-Oram Syndrome
OMIM #142900
Clinical information Holt-Oram syndrome is a genetic disorders of upper limb malformation (hypoplasia or aplasia of thumbs, radial bone, ulnar bowing) accompanied with congenital heart defect (usually VSD). The disease is caused by mutations in the TBX5 gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes TBX5
Analysis description Sequencing analysis of the TBX5 gene
Analysis indication Holt-Oram Syndrome
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders