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A member asked:
Is there any test than can be done to test for carrier of glycogen storage disease type 1a ?
A doctor has provided 1 answer
Von Gierke Disease: Molecular genetic testing for mutations of the G6PC gene on chromosome 17q21 is available. If 1 parent is a carrier, the other parent needs testing. If both are carriers, each fetus. has a 25% chance of inheriting the mutant gene from both parents, thus having VGD. Prenatal molecular genetic testing of amniotic fluid is also available. Call 1300-88-1362 or see http://m.dna-laboratories.com.
Answered 1/27/2015
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