This condition is the most common form of inherited mental retardation. One in 1000 males is affected with Fragile X syndrome and as many as 1 in 800 women may carry the genetic alteration. Fragile X syndrome should be considered in the differential diagnosis of all patients with developmental delay, particularly when there is a positive family history. We utilize a Southern blot based method for this assay. We also request the parent's signed consent for DNA analysis.
Forms are available by fax.
Please do not centrifuge or freeze blood. While cirrhosis and hepatoma comprise the most serious pathologic findings, other presentations of HH include diabetes, cardiomyopathy, arthritis, and nonspecific symptoms similar to those in many other conditions. HH is a common disorder, affecting 1 in 200-2000 individuals, with an estimated gene carrier frequency of 1 in 10. We use direct DNA analysis to evaluate for the presence of the two common HH mutations. We also request the patient sign a consent for DNA analysis.