Ehlers-Danlos Syndrome, Arthrochalasis Type - Diagnostic Tests

Diagnostic Tests

• Clinical evaluation
• Ultrastructural studies of dermal collagen fibrils show fibrils that are near-circular in cross-section, with irregular fibril contours, a decreased and more variable fibril diameter and decreased fibril density.
• Electrophoresis demonstrating the pNa1(I) (type A) or pNa2(I) (type B) chains of collagen type I extracted from dermal collagen or harvested from cultured skin fibroblasts.
• Molecular analysis showing complete or partial skipping of exon 6 at the cDNA-level of the COL1A1 or the COL1A2 gene, respectively, usually caused by splice site mutations at the genomic DNA leve

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, classic 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.

Clinical checklist (downloadable version)

Cell Biology Tools<

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

Molecular Genetic Tools

Causative genes

COL1A1
COL1A2

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

Mutation Database

COL1A1
COL1A2

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