Sponsored diagnostic testing programs for Combined Oxidative Phosphorylation Deficiency (COXPD)
Combined Oxidative Phosphorylation Deficiency (COXPD) is a group of inherited mitochondrial disorders caused by impaired energy production in the respiratory chain. Symptoms often begin in infancy or early childhood and may include muscle weakness, developmental delays, feeding difficulties, and multi-organ involvement. The severity and progression vary widely depending on the underlying genetic cause.
2 programs found for Combined Oxidative Phosphorylation Deficiency (COXPD)
This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.
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.
