Recurrent Metabolic Crises with Rhabdomyolysis, Cardiac Arrhythmias and Neurodegeneration

Sponsored diagnostic testing programs for Recurrent Metabolic Crises with Rhabdomyolysis, Cardiac Arrhythmias and Neurodegeneration

This condition causes episodic metabolic crises featuring rhabdomyolysis, arrhythmias, and progressive neurologic decline. Episodes may be triggered by illness, fasting, or exercise. Genetic testing identifies the underlying metabolic defect and guides avoidance strategies, acute management, and counseling.

1 program found for Recurrent Metabolic Crises with Rhabdomyolysis, Cardiac Arrhythmias and Neurodegeneration

Programs

1 program
Invitae Unlock™

Invitae Epilepsy Panel

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.

Neurology
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Performing labInvitae | Labcorp