| EX0747 GALACTOSEMIA CLASSICAL (TRANSFERASE) 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: |
Classical Galactosemia due to complete deficiency of Galactose -1- phosphate uridyltransferase is characterized by poor growth, mental retardation, speech abnormalities, vision impairment due to cataract, and liver enlargement. Partial deficiency of Galactose -1- phosphate uridyltransferase leads to Galactosemia Duarte variant. |
| 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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