Master's in Genetic Counseling (MGC)

Galactosemia Screening in Delaware

Screening for galactosemia in the state of Delaware is performed using 3 different assays. The first, the Beutler enzyme test, is an immuno fluorescence test for the presence of the normal transferase enzyme in red blood cells. The second test is a bacterial inhibition assay used to estimate blood galactose-1-phosphate levels. The last test, the Hill test, is a fluorometric chemical spot test for galactose and galactose-1-phosphate, or "total galactose". The Hill test is a supplementary test and is performed on any sample that has an abnormal Beutler result. A liquid blood sample is required for diagnostic testing.

The follow-up recommendations for galactosemia screens in the state of Delaware are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
normal enzyme, galactose <10 mg/dl	normal	none
normal enzyme, galactose 10-29 mg/dl, when infant is >72 hours old OR infant has NOT been transfused	abnormal result	A repeat filter paper specimen is recommended. If the repeat specimen is abnormal, definitive testing is recommended.
normal enzyme, galactose 10-29 mg/dl, when infant is <72 hours old OR infant has been transfused	abnormal result	It is recommended that the infant be examined and a repeat filter paper specimen be obtained within 48 hours. If the repeat specimen is abnormal, definitive testing is recommended.
normal enzyme, galactose >30 mg/dl	abnormal result	It is recommended that the infant be examined and a repeat filter paper specimen be obtained within 48 hours. If the repeat specimen is abnormal, definitive testing is recommended.
abnormal enzyme, total galactose <15 mg/dl, when infant is <72 hours old OR NOT on lactose formula OR feeding history is unknown OR infant has been transfused	abnormal result	It is recommended that the infant be examined and a repeat filter paper specimen be obtained within 48 hours. If the repeat specimen is abnormal, definitive testing is recommended.
abnormal enzyme, total galactose <15 mg/dl, when infant is >72 hours old OR on lactose formula	abnormal result	A repeat filter paper specimen is recommended. If the repeat specimen is abnormal, definitive testing is recommended.
abnormal enzyme or total galactose >15 mg/dl	abnormal result	NO REPEAT FILTER PAPER SPECIMEN. Definitive testing is recommended within 24 hours. If definitive testing is abnormal, galactosemia or a variant is confirmed.

 

NOTE: REFERRAL TO A METABOLIC CLINIC IS STRONGLY RECOMMENDED FOR ASSISTANCE IN DEFINITIVE DIAGNOSIS, TREATMENT, AND FOLLOW-UP OF THE DISORDER. METABOLIC CLINICS ARE AVAILABLE IN PHILADELPHIA (ST. CHRISTOPHER'S HOSPITAL AND CHILDREN'S HOSPITAL OF PHILADELPHIA) OR BALTIMORE (UNIVERSITY OF MARYLAND AND JOHNS HOPKINS HOSPITAL).

 

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