Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Sponsored diagnostic testing programs for Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Long-chain fatty acid oxidation disorders (LC-FAOD) are inherited metabolic conditions in which the body cannot properly break down long-chain fatty acids for energy. This leads to energy deficiency, especially during illness or fasting, and can cause hypoglycemia, liver dysfunction, muscle weakness, and life-threatening rhabdomyolysis. Early diagnosis supports nutritional management and reduces severe metabolic crises.

1 program found for Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Programs

1 program
Long-Chain Fatty Acid Oxidation Disorders
Sponsored by
Ultragenyx Pharmaceutical, Inc.

Invitae Fatty Acid Oxidation Defects Panel

This program gives clinicians in the US and Canada access to a comprehensive FAOD gene panel at no cost for patients with suspected LC-FAOD. The Invitae Fatty Acid Oxidation Defects Panel covers a broad set of genes involved in long-chain fatty acid transport and β-oxidation. The program supports diagnostic confirmation, personalized management, and appropriate follow-up for FAOD. There is no billing to patients, providers, or payers.

Metabolic