The possibility of fragile X syndrome should be considered for any male or female with mental retardation or learning disabilities of unknown etiology. The Fragile X DNA Test provides definitive diagnosis of fragile X syndrome and accurate carrier detection. The test detects the fragile X mutation which is an expanded sequence of CGG repeats in the FMR1 gene. Fragile X DNA testing should also be offered to all individuals with a family history of fragile X syndrome or mental retardation of unknown cause and to all women with premature menopause.
Indications for Fragile X DNA Testing:
Any male or female with mental retardation, developmental delay or learning disabilities of unknown cause
Any male or female with autism or autistic-like characteristics
Individuals with a family history of fragile X syndrome or mental retardation of unknown cause
Women with premature menopause
Individuals with a previous fragile X cytogenetic test result that was positive or inconclusive
In the obstetric setting:
Pregnant women or their spouses with a family history of fragile X syndrome or mental retardation of unknown cause
Fetuses of a mother known to be a fragile X carrier
Our Fragile X DNA Test Service Provides:
Diagnostic testing
Carrier identification
Prenatal testing
Genetic consultation by board-certified geneticists
Method: Both Southern blot and polymerase chain reaction (PCR) analysis are performed on every sample. The combination of these two approaches yields the most accurate results and the most detailed information.
Results include the following:
Presence/absence of the mutation
Mutation category (premutation, full mutation, or mosaicism)
CGG repeat number
Methylation status of full mutations
Genetic interpretation, recommendations, and education
Specimen requirements: 10 ml whole blood in an EDTA tube (lavender top), room temperature.
Turnaround time: 7-11 days
For prenatal testing: direct or cultured amniocytes; direct or cultured CVS cells.
Please call Kimball Genetics for more information.
