Gene panel specific for pulmonary hypertension and its uses

A method for the diagnosis of genetic defects in pulmonary arterial hypertension (PAH) and/or chronic thromboembolic pulmonary hypertension (CTEPH), comprising the following steps:

• (a) providing at least one sample,
• (b) extracting the genomic DNA from said sample(s),
• (c) determining whether at least one mutation in terms of one or more altered base pairs, smaller and larger deletions or insertions in the genes with the nucleotide sequence of SEQ ID NOs:
• 1 to 14 is present,
• wherein the presence of said at least one such mutation is a genetic confirmation of existing PAH or indicative for the increased probability for PAH/CTEPH to manifest in not yet affected relatives of PAH/CTEPH patients, and
• (d) optionally, determining whether detected mutations/gene variants have pathological consequences either predicted with in silico prediction programmes and/or functional studies
• wherein the sample(s) is/are patient sample(s) or sample(s) from a relative of a PAH/CTEPH patient.

A kit for the diagnosis of genetic defects in pulmonary arterial hypertension (PAH) and/or chronic thromboembolic pulmonary hypertension (CTEPH), comprising:

• (i) means for carrying out next generation sequencing and detecting at least one mutation in terms of one or more altered base pairs, smaller and larger deletions or insertions in the genes with the nucleotide sequence of SEQ ID NOs:
• 1 to 14,
• (ii) optionally, means for processing genomic DNA,
• (iii) optionally, means for carrying out Sanger sequencing, or multiplex ligation-dependent probe amplification or quantitative polymerase chain reaction.