Sponsored diagnostic testing programs for Propionic Acidemia
Propionic Acidemia is a rare inherited metabolic disorder caused by defects in the breakdown of certain amino acids and fats, leading to toxic buildup of propionic acid. Symptoms often begin in infancy and may include poor feeding, vomiting, lethargy, metabolic acidosis, and risk of long-term neurologic and cardiac complications. Early diagnosis and metabolic management are essential for stabilizing patients and preventing severe episodes.
1 program found for Propionic Acidemia
The Invitae Unlock™ Cardiomyopathy & Arrhythmia program offers no-charge genetic testing for U.S. patients with suspected inherited cardiomyopathy or arrhythmia. The comprehensive panel supports diagnostic clarification, risk assessment, and family variant identification. Eligible patients may access testing at no cost when ordered by a qualified healthcare provider.
