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Testing
Methods
Direct
A diagnostic test detecting DNA sequence alteration(s)
known to be 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. Also, biochemical testing may
be done on cells or specimens directly.
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 often required to confirm
fetal cell sampling. Please consult with Great Lakes Genetics prior
to sending any prenatal samples.
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 Great Lakes Genetics
prior to sending samples for linkage studies.
Before sending a sample to Great Lakes Genetics, please refer to
the test description page for specific sample instructions.Go to
Clinical Services or Cytogentic
Testing for more information on the tests we perform.
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