Triphalangeal thumb with polysyndactyly
Analysis ID 35
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Triphalangeal thumb with polysyndactyly
OMIM #174500
Clinical information Triphalangeal thumb with polysyndactyly – The thumb is usually opposable and possesses a normal metacarpal. Instead of a normal thumb one or two fingers with index-like appearance are present. Inheritance is autosomal dominant.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes ZRS region
Analysis description Sequencing analysis of the ZRS region located in the intron 5 of the LMBR1 gene
Analysis indication Triphalangeal thumb with/without polysyndactyly
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders