FraX Syndrome
Analysis ID 6
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness FraX Syndrome
OMIM #300624
Clinical information Fra X syndrome shows relatively high frequency in the population: 1 per 4000 men and 1 per 7000 women and comprises 15-25% cases of all mental retardation linked to X chromosome (2-2,5% of all men). The disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation which results in transcriptional silencing of the gene.
Type of analysis Molecular
Type of biological material 5-10ml peripheral blood collected in the EDTA tube (5 ml for the children)
Analyzed genes FMR1; FRAGILE X MENTAL RETARDATION GENE
Analysis description Amplification of the repetitive region of CGG within the male or female patients (molecular screening). Patients with normal number of the triplet repeats (under 50) show normal result. The assay does not determine the exact number of triplet repeats!
Analysis indication Mental retardation, especially within boys/men, regular karyotype . additionally within men/boys with FraX phenotype signs occurs: long face, large head perimeter, large ears and testicles
Analysis time 1-2 weeks
Refund Yes
CGM laboratory name Laboratory for molecular genetics