Master's in Genetic Counseling (MGC)
Galactosemia Screening in New Jersey
Screening for galactosemia in the state of New Jersey is performed by a Wallac semi-quantitative enzymatic assay of Beutler and Baluda to determine the enzyme activity of galactose-1-phosphate uridyl transferase (GALT). Galactose is also measured by this fluorometric assay. Specimens with decreased or low GALT or elevated galactose are presumptive positive. Repeat filter screening is not requested.
The follow-up recommendations for galactosemia screens in the state of New Jersey are as follows:
| Newborn Screening Result | Interpretation | Follow-Up Action Recommended |
| GALT >3.5 units/gHb | normal or full enzyme activity | none |
| GALT <3.5 units/gHb and/or galactose elevated (>7.2 mg/dl) | decreased enzyme activity or elevated galactose | A clinical evaluation by a metabolic/genetic consultant is recommended. |
Return to Galactosemia /
State Screening Program Contacts /
New Jersey Consultants
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