Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

Sponsored diagnostic testing programs for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

This disorder results from impaired peroxisomal fatty alcohol metabolism and may cause developmental delay, hypotonia, seizures, and variable facial or skeletal anomalies. Severity ranges from mild to severe. Genetic testing establishes the diagnosis and supports metabolic management and family planning.

1 program found for Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder

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