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There are several tests used to diagnose COPD, including pulmonary function tests like spirometry, imaging such as chest x-rays or CT scans, arterial blood gas tests, ECG, and even genetic testing

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The fact that i) these 8 patients were diagnosed years ago [12], ii) none of them originally experienced major vascular events (1 individual with the COL1A1 variant showed aortic ectasia, uncomplicated tortuous vertebral arteries, and left ventricular thickening), and iii) all underwent periodical vascular surveillance that resulted negative at the time of writing, suggests that the supposed genotype-phenotype correlations of these variants should not be considered valid in all cases