Fraser syndrome
Analysis ID 210
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Fraser syndrome
OMIM #219000
Clinical information Fraser syndrome is a severe autosomal recessive congenital disorder mainly characterized by developmental defects including cryptophthalmos ("hidden eyes"), syndactyly, and genitourinary malformations (cryptorchidism, micropenis, clitoromegaly or renal anomalies). Mental retardation has also been noted in a significant number of patients (up to 80%), who survived early infancy. Additionally, congenital defects affecting nose, ear, and larynx have been reported in a subset of patients.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes FREM2
Analysis description Analysis of the most common mutation in exon 6 of the FREM2 gene
Analysis indication Symptoms of Fraser syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders