| EX0745 GALACTOSEMIA (EPIMERASE) QUANTITATIVE, BLOOD |
| Specimen: |
4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
48 hrs |
NA |
|
| Method: |
Enzyme assay |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Galactosemia is an autosomal recessive disorder caused by an inability to metabolize galactose which is derived from lactose (milk sugar). The accumulation of galactose can cause feeding problems, vomiting, sepsis, diarrhea, dehydration, and hypoglycemia. Cataracts and mental retardation develop gradually. It is a mild and rare variant of galactosemia. |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Inborn errors of metabolism |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
GENETICS |
| Pre Test Information: |
Avoid sample collection for 60 days post-transfusion. Clinical and drug history must accompany the sample. |
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