Cutis Laxa, Hereditary - Diagnostic Tests
- Clinical assessment.
- Light microscopy of a skin biopsy, using a Verhoeff-von Giesson stain for elastin, can reveal the absence or disruption of elastic fibers.
- Molecular analysis of the elastin gene, fibulin-4 and/or fibulin-5.
- In case of occipital horn syndrome: serum copper and ceruloplasmin.
This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:
- model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
- a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
- a list of molecular genetics tools, including mutational screening procedures, oligonucleotide primer sequences, PCR amplification conditions, and other details for selected diseases. In this section, you also find the link for the gene-specific page of the Weizmann Institute of Science GeneCards website (http://www.genecards.org) which is an integrated database including information on disease relationships, SNPs, gene expression, gene function and more.
- a mutation database with a GENESKIN updated list of the mutations identified in the genes responsible for selected diseases. A link with the gene-specific page at the Human Gene Mutation Database maintained at the University of Wales in Cardiff (www.hgmd.org) and other databases, such as the collagen database in Leicester (www.le.ac.uk/genetics/collagen), is also available.
The diagnostic questionnaire is too large to fit in this page, but will be made available on the website of the Center for Medical Genetics, http://medgen.ugent.be
Clinical checklist (downloadable version)
Cell Biology Tools
This information can be made available on request. Please send your request to Prof. Paul Coucke (firstname.lastname@example.org)
Molecular Genetic Tools