Fragile X syndrome other diagnostic studies
|
Fragile X syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Fragile X syndrome other diagnostic studies On the Web |
|
American Roentgen Ray Society Images of Fragile X syndrome other diagnostic studies |
|
Risk calculators and risk factors for Fragile X syndrome other diagnostic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The diagnosis of fragile X syndrome is confirmed by molecular genetic testing of the FMR1 gene. Patient DNA (often extracted from blood) can be analyze to look for changes in FMR1 gene. Prenatal testing is available to look for FMR1 gene alterations.
Other Diagnostic Studies
Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X chromosome. This technique proved unreliable for both diagnosis and carrier testing.
The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using restriction endonuclease digestion and Southern blot analysis.