Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Genomic sequencing of the entire coding region

Name

Genomic sequencing of the entire coding region

Test Details

Sequencing is restricted to the coding region but includes the splice sites and known regulatory units.

Specificity

All known and new missense, nonsense and splice mutations can be detected.

Advantages

An important advantage is that this method substantially reduces the costs in comparison with complete gene sequencing. By focusing on areas of interest it is easy to
interpret mutations in terms of there pathogenetical relevance
function. New, not yet described mutations could be detected by this method, too.

Disadvantages

There are still high costs. An other disadvantage is the uncertainty about
possibly relevant mutations laying outside the sequenced region, deep intronic mutations. Large rearrangements can not be detected by this method, too.

Usage

This method is appropriate for genes with mutation hot spots and conserved sequence segments not yet determined.

Cost

The cost correlates with the number of sequenced segments, which varies widely from some few to more than 50. The exact figures are available on request. Furthermore, according to our research
interest we offer discounts if detailed clinical data are provided or there is a scientific interest. The turn-around time also depends on the number of segments. The time scale ranges from 1 to about 6 weeks.
If there is an urge, in pregnancy for instance, we can speed up the procedure.