DIRECT:
A diagnostic test detecting DNA sequence alteration(s) known to be found at high frequency in individuals affected with the disorder in question. These types of DNA sequence alterations include (but are not limited to) point mutations, deletions, insertions, inversions, and trinucleotide repeat expansions.
to obtain peripheral blood sample preparation and shipping information.PRENATAL:
A diagnostic test involving amniotic fluid cells (AF) or chorionic villi (CVS). In most situations, the diagnostic test can be performed directly on the AF or CVS. All prenatal samples received are established in cell culture as a back-up which entails an additional cost. A sample of maternal peripheral blood is required to confirm fetal cell sampling. Please consult with CompGene prior to sending any prenatal samples. to obtain prenatal sample preparation and shipping information.LINKAGE:
A diagnostic test involving the study of several family members in order to determine the segregation pattern of the "at risk" locus. Many highly informative markers are now available for known disease genes. Many of these markers either flank or are intragenic to the disease gene locus and provide very accurate prediction of disease risk. In certain disorders, linkage studies provide the most accurate and cost-effective diagnostic testing as the disorder has significant mutation heterogeneity.It must be appreciated that not all family structures are amenable to linkage studies. In addition, not all families will yield information with the known markers. Please consult with CompGene prior to sending samples for linkage studies.