Fragile X Syndrome Testing
Fragile X syndrome is the most common form of inherited intellectual disability. Fragile X syndrome occurs among all ethnic backgrounds and racial groups. Approximately 1 in 260 women in the general population are carriers of fragile X syndrome. Additionally, women of all ages can have a child affected with fragile X syndrome, regardless of whether they have had previous healthy children.
- a family history of fragile X syndrome
- a family history of unexplained mental retardation, developmental delay or autism
- infertility problems associated with elevated follicle stimulating hormone (FSH) levels, premature ovarian failure (POF) or unexplained early menopause
Peripheral blood sample collected in a purple top tube (EDTA) labeled with patient’s name and date of birth. A completed test requisition form must be included with every sample. A transport kit is available upon request.
Adult: 20 ml whole blood.
Child: 5-7 ml whole blood.
Purple top tube (EDTA)
Laboratory testing Fragile X Syndrome involves highly sensitive PCR analysis, with reflex to Southern blot for all positive samples to determine the number of CGC repeats present in the Fragile X gene located on chromosome X.
Room temperature (DO NOT refrigerate, freeze or centrifuge)
Causes for Rejection
Frozen specimen, clotted or hemolysed, inappropriate container