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Fragile X, PCR and Southern Blot Analysis
Diagnostic testing for:
• Unexplained intellectual disabilities, developmental delay, or autism
• Women with primary ovarian insufficiency or failure, premature menopause, or infertility associated with elevated FSH levels before the age of 40 with no known cause
• Individuals with late onset intention tremor and/or cerebellar ataxia of unknown origin
Polymerase chain reaction (PCR) followed by capillary electrophoresis and Southern blot analysis performed on all samples at the same time
Fragile X syndrome is the leading cause of inherited intellectual disability, affecting approximately 1 in 4,000 males and 1 in 8,000 females. It is found in all ethnic groups, and can occur in families with no history of intellectual disability. Women may decide to have testing to find out if they are carriers, and therefore are at risk of having a child with fragile X syndrome. The carrier frequency in women is approximately 1 in 260. Fragile X test is commonly used for individuals at higher risk, including those that may be symptomatic or have a family history suggestive of fragile X syndrome.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen