Indications for genetic testing
- Individuals with confirmed or probable arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Individuals with a family history of sudden death
- Individuals with ventricular arrhythmias from the right ventricle without known underlying disease
- Individuals with dilated cardiomyopathy associated with frequent ventricular arrhythmias
- Patients with cardiomyopathy associated with palmoplantar keratoderma (Naxos disease)
- Relatives of patients with a diagnosis of ARVC (cascade screening)
- Individuals with Brugada-like ECG pattern
Guidelines for genetic testing
1. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L; European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010 Nov;31(22):2715-26. Epub 2010 Sep 7.
2. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). Europace. 2011 Aug;13(8):1077-109. No abstract available. Erratum in: Europace. 2012 Feb;14(2):277.
Request genetic testing
1. Sample type
Blood (Extract 5 to 10 ml of peripheral blood from the patient and collect in tubes with EDTA. The sample must be received in our laboratory within no more than 72 hours)
2. Informed consent for the ARVC registry and biobank (german) and genetic test form (german and english)
3. Patient’s clinical details
If you would like to send us your personalised advice adapted to your particular patient, we recommend that you send us an up-to-date medical report by e-mail, post or courier service (with the patient's sample). Additionally, please fill out the Genetic Test Form including the patient’s signature/place/date and enclose it to your mail. If the patient is willing to participate in our ARVC registry and biobank, please contact us for further information.
4. How to send us the samples
Pack the sample so that it is not affected by rough handling or sudden changes in temperature (preferably in a standard padded envelope). Enclose a copy of the details of the person requesting the sample, billing information, patient's informed consent/genetic test form and clinical details.
Send it by courier service to the following address:
Dr. med. Ardan M. Saguner, MD
Assistenzarzt Klinik für Kardiologie
Rämistrasse 100
8091 Zürich
Try to send the sample so that we will receive it between Monday and Thursday from 08:00-15:00, avoiding public holidays.
If you have any questions or comments, please contact us by telephone, fax or e-mail:
Phone: +41 (0)44 255 90 09
Fax: +41 (0)44 255 44 01
E-mail: arvc@usz.ch