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Fragile X Syndrome, PCR With Reflex to Southern Blot
Carrier screening for individuals who are pregnant or considering pregnancy and who have no family or personal history of fragile X syndrome, fragile X-related disorders (primary ovarian insufficiency, or late-onset ataxia) or unexplained intellectual disabilities, developmental delay, or autism.
Polymerase chain reaction (PCR) followed by capillary electrophoresis with reflex to Southern blot analysis for all positive samples
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