This test is used to diagnose Fragile X syndrome and to determine whether someone (male or female) is a premutation carrier, which is used for determining FXPOI (Fragile X-associated primary ovarian insufficiency) and FXTAS (Fragile X-associated tremor/ataxia syndrome).

PCR testing has specific applications in Fragile X Syndrome detection. It can determine various aspects of the FMR1 gene, such as the number of CGG repeats in the gene and whether there is a full mutation, premutation, or normal variation.

Fragile X syndrome is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Males with fragile X syndrome almost always exhibit mental retardation, usually in the moderate range, and often have …

XSense®, Fragile X with Reflex - Fragile X syndrome (FXS OMIM # 300624) is the most common inherited mental retardation syndrome, affecting approximately 1:4000 males and approximately 1:8000 females.

Polymerase chain reaction (PCR) followed by capillary electrophoresis, methylation PCR analysis and reflex to AGG interruption analysis when appropriate

The polymerase chain reaction (PCR) analysis can determine the actual number of CGG repeats (a pattern of DNA) that are present in the Fragile X gene. For various technical reasons, PCR has not been the test of choice to diagnose a full mutation, but is quite accurate in determining premutation and normal gene repeat numbers.

Fragile X syndrome is an X-linked disorder with variable expression in male and female patients. In greater than 99% of affected individuals, it is caused by an expansion of the CGG trinucleotide repeat in the 5'UTR (untranslated region) of the FMR1 gene located on the X chromosome.

Preferred test to diagnose fragile X syndrome. May be used as carrier screening in individuals with a positive family history.

Apr 1, 2021 · Methodological considerations are provided for Southern blot analysis and polymerase chain reaction (PCR) amplification of FMR1, including triplet repeat–primed and methylation-specific PCR.

Fragile X syndrome (FXS), a trinucleotide repeat disorder, is the most common heritable form of cognitive impairment. Since the discovery of the FMR1 gene in 1991, great strides have been made in the field of molecular diagnosis for FXS.