Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency

Sponsored diagnostic testing programs for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency

DHFR deficiency causes megaloblastic anemia due to impaired folate metabolism and may include developmental delay, seizures, or immune dysfunction. Early treatment with folinic acid may improve outcomes. Genetic testing confirms the diagnosis and guides therapy and counseling.

1 program found for Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency

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