Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Target mutation analysis

Name

Target mutation analysis

Test Details

Sequencing is restricted to an area of interest where either special protein function are coded or mutation hot spots are located.

Specificity

Only in the region of interest, known and new missense, nonsense and splice mutations can be detected.

Advantages

The efforts can be focused a short sequence. This substantially reduces the cost and saves time.

Disadvantages

Relevant mutations outside this area can not be exclude. These mutations include nonsense, frameshift, and splice mutations.

Usage

This method is appropriate for well described genes with mutation hot spots and conserved sequence segments. If searching for a gain-of-function mutation, this the method is the first choice because usually only few amino acid changes can be responsible and nonsense, frameshift, and splice mutations are most likely to cause loss-of-function mutations.
This method is also used for altered function of receptor binding sites, sites of activation or
deactivation, and catalytic centres.

Cost

The cost correlates with the number of sequenced segments, which are seldom more than 3, so the turn-around time is about a week.

Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues