Classical Galactosemia by Neonatal Total Galactose Assay
| Data | Value |
|---|---|
| Method | Fluorescent Galactose Oxidase method. |
| CPT Code | |
| Testing Scope | Detection of elevated levels of Galactose from clinical specimens. |
| Preferred Specimen | Heel stick dried blood spots collected on FDA-approved filter paper (Perkin Elmer 226 Ahlstrom) at 24-48 hours of age and at 10-14 days of age. |
| Specimen Container | Specimen collection kit comes with a biohazard flap to cover the blood when dried for about 4 hours and placed in an envelope for shipment. |
| Specimen Identification | All information fields on the kit must be completely filled out. Each kit has a unique serial number and barcode. |
| Special Instructions | After air-drying for 4 hours, send specimen for overnight delivery within 24 hours after collection. |
| Shipping Requirements | Do not place specimen in a zipper bag without desiccant. Do not expose to direct sunlight, excessive humidity or high temperature. |
| Note | Not enough feeding with milk may have false-negative result. |
| Sample Rejection Criteria |
|
| Turnaround Time | Normal result within 24-36 hours. Presumptive positive result within 48-72 hours. |