Feingold Syndrome
Analysis ID 93
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Feingold Syndrome
OMIM #164280
Clinical information Feingold Syndrome - oculo-digito-esophago-duodenal syndrome - is a congenital disorder inherited in an autosomal dominant manner. Characteristic clinical features include microcephaly, hand and foot abnormalities (hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly of 2 and 3, 4 and 5 toes). Esophageal/duodenal atresia, facial dysmorphism, as well as learning disability may also occur. Disorder is caused by mutations in the MYCN gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes MYCN
Analysis description Sequencing analysis of the MYCN gene.
Analysis indication Symptoms of Feingold Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders