| EX0749 GALACTOSEMIA PANEL 1 |
| Specimen: |
4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube AND 4 mL (2 mL min.) CONTROL blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
48 hrs |
NA |
|
| Method: |
Spot Test, Enzyme assay |
| Comment: |
CONTROL blood should NOT be taken from blood relatives. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Galactosemia is an autosomal recessive disorder resulting from the deficiency of any of the three enzymes required for galactose metabolism. Galactosemia due to deficiency of Galactose -1- phosphate uridyl transferase (GALT) is the commonest cause and is called Classical Galactosemia. Duarte variant galactosemia is generally associated with higher levels of enzyme activity (5-20%) than Classical galactosemia (< 5%). |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Inborn errors of metabolism |
| Components: |
*Galactosemia Screening *Galactosemia Classical (Transferase) |
| 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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