Chromosome Analysis, Fragile X

Chromosome Analysis, Fragile X is a test to diagnose Fragile X syndrome – a genetic disorder characterized by various development abnormalities. Presence of mutation in the FMR1 genes in the body causes Fragile X syndrome also known as Martin-Bell Syndrome. Chromosome Analysis, Fragile X test detects the presence of the mutated FMR1 gene and identifies developmental (delayed growth, abnormal head circumference, elongated face, loose joints, flat feet, etc.), intellectual, and learning disabilities (issues with feeding, sleep, and behavior).

Chromosome Analysis, Fragile X test involves DNA sequencing to identify mutation in the FMR1 gene from the blood sample. This test can be done in women while being pregnant and/or also in children after birth. Average age to diagnose Fragile X syndrome in boys is 35-37 months and in girls is 41.6 months.