Ehlers-Danlos Syndrome, Vascular Type - Diagnostic Tests

Diagnostic Tests

Clinical evaluation

• Biochemical protein-based testing of radioactively labeled collagen type III from skin fibroblast cultures to detect quantitative (reduced amounts of collagen type III) or qualitative (mutant collagen type III with altered electrophoretic mobility) abnormalities of type III collagen.Biochemical testing for the vascular type of EDS probably identifies more than 95% of individuals with structural alterations in the proteins synthesized, but may be less sensitive in identifying vascular EDS that is a consequence of mutations that decrease production

Molecular analysis

• COL3A1 “null” allele testing: to evaluate whether both COL3A1 alleles have stable transcipts
• mutation analysis: mutations on one allele of gene coding for collagen type III (COL3A1)

Diagnostic Tools

This section offers to professional users instruments helpful to establish the disease diagnosis. Specific entries include:

1. model questionnaires, protocols, or checklists, which may guide clinicians and laboratory personnel in the diagnostic procedure of specific disease groups/subgroups;
2. a list of cell biology/biochemical tools used for laboratory diagnosis of specific diseases or group of diseases;
3. 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.
4. 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.

Model Questionnaire

Here you will find the downloadable version of the Ehlers-Danlos syndrome, Vascular type patient form. This document is currently used to collect patient details before sending the biological sample to the diagnostic laboratory, in order to ease cellular and/or molecular investigations.

EDS, Vascular type patient form (downloadable version)

Clinical checklist (downloadable version)

Cell Biology Tools

SDS-PAGE analysis of radioactively labeled collagen type III from skin fibroblast cultures (information available on request: (paul.coucke@ugent.be).

Molecular Genetic Tools

Causative genes

COL3A1

This information can be made available on request. Please send your request to Prof. Paul Coucke (paul.coucke@ugent.be)

Mutation Database

Causative genes

COL3A1

This information can be made available on request. Please send your request to Prof. Paul Coucke (paul.coucke@ugent.be)