The detection of mutations on the Wilson’s disease gene can confirm the disease in around 90% of cases.
In France, three genetics laboratories are specialised in studying the Wilson’s disease gene, which is located on chromosome 13 and comprises 21 exons. Determining a mutation by sequencing the entire coding sequence and intron/exon junctions can confirm a diagnosis of Wilson’s disease in at least 90% of cases. More than 500 mutations of the ATP7B gene have been described. For this reason, the analysis is often long and difficult, particularly since patients are usually composite heterozygotes with a different mutation on each allele, and that new variants, whose pathogenicity is not known, are frequently evidenced.
When a patient is diagnosed as having Wilson’s disease, screening of the family is essential.
Documents to be provided when requesting a molecular diagnosis of WILSON’S DISEASE
Sample: 115 ml blood collected on EDTA from each subject and both parents.
In France, three laboratories can make a molecular diagnosis of Wilson’s disease.
- C Collet – Hôpital Lariboisière
- M Misrahi et A Mantel – Hôpital Bicêtre
- M Bost – CHU Lyon
These biologists regularly take part in European quality control campaigns on the conduct of these genetic tests (External Quality Assessment for the EMQN, or European Molecular Genetics Quality Network).
Biochemistry and Molecular Biology Department – Hôpital Lariboisière – Paris
2 Rue Ambroise Paré – 75475 Paris Cedex 10
Tel. : 01 49 95 64 34 – Fax : 01 49 95 84 77
Email : firstname.lastname@example.org
Hormonology and Molecular Biology Laboratory – Hôpital Bicêtre – Le Kremlin Bicêtre
78 rue du Général Leclerc – 94275 Le Kremlin-Bicêtre Cedex
Tel : 01 45 21 33 29 – Fax : 01 45 21 38 22
Neurogenetics and Hereditary Metabolic Diseases Laboratory – Hôpital Femme-Mère-Enfant – Lyon
Centre de Biologie et de Pathologie Est
Service Biochimie et Biologie Moléculaire Grand Est – UM Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal
55 Boulevard Pinel – 69677 Bron Cedex
Tel. : 04 72 12 95 01 – Fax : 04 72 35 73 35
Email : email@example.com