Diagnostic test for cardiomyopathy

A method of screening for, diagnosing and/or detecting an increased risk of developing arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) in a human subject comprising:

• a) obtaining a sample from the subject;
• b) assaying the sample for the presence of and detecting a T variant in a transmembrane protein 43 (TMEM43) nucleic acid molecule at nucleotide position corresponding to 171 of SEQ ID NO:1 thereby identifying the subject as having ARVD/C or an increased risk of developing ARVD/C, the assaying comprising:
• amplifying the TMEM43 nucleic acid molecule using one or more primers selected from SEQ ID NOS:
• 19, 20, 23, 24, 43 and 44 and/or hybridizing a probe comprising 16-20 nucleotides of SEQ ID NO:53 to the TMEM43 nucleic acid molecule to detect the T variant in the sample from the subject.

A method of screening for, diagnosing and/or detecting an increased risk of developing arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) in a human subject comprising:

• a) obtaining a sample from the subject;
• b) isolating mRNA from said sample, and deriving from it corresponding DNA (cDNA);
• c) assaying the cDNA for the presence of and detecting a T variant in a transmembrane protein 43 (TMEM 43) nucleic acid molecule at nucleotide position corresponding to nucleotide 171 of SEQ ID NO:
• 1 thereby identifying the subject as having ARVD/C or an increased risk of developing ARVD/C, the assaying comprising hybridizing a probe and/or primer to the TMEM43 nucleic acid molecule.