There are currently two main ways to receive a definitive Barth syndrome diagnosis: genetic testing forTAFAZZIN variants and/or analysis of the monolysocardiolipin (MLCL) to cardiolipin (CL) ratio (MLCL/CL) via mass spectrometry.
There are currently two main ways to receive a definitive Barth syndrome diagnosis: genetic testing forTAFAZZIN variants and/or analysis of the monolysocardiolipin (MLCL) to cardiolipin (CL) ratio (MLCL/CL) via mass spectrometry.
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