Test List – Biochemical Tests (Special Enzymes)
Special Enzymes
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5 ml EDTA / Heparinised blood
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No.
|
Tests
|
Sample Required
|
Approx. Turn
|
|
|
|
|
Around time
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|
01
|
Alfa Fucosidase
|
Fucosidosis
|
1 – 2 Wks
|
|
02
|
Alfa Galactosidase
|
Fabry’s Dis.
|
1 – 2 Wks
|
|
03
|
Alfa Glucosidase
|
Pompe’s Disease
|
1 – 2 Wks
|
|
04
|
Alfa Mannosidase
|
Mannosidosis
|
1 – 2 Wks
|
|
05
|
Aryl Sulphatase A
|
MLD
|
1 – 2 Wks
|
|
06
|
Aryl Sulphatase B
|
MPS IV
|
1 – 2 Wks
|
|
07
|
Aryl Sulphatase A + B
|
Multiple Sulphatase Def.72 Hrs
|
|
|
08
|
Beta Galactosidase
|
MPS IV B
|
1 – 2 Wks
|
|
09
|
Beta Galactosidase
|
GM 1 Gangliosidosis
|
1 – 2 Wks
|
|
10
|
Beta Galactocerebrosidase
|
Krabbe’s Disease
|
4 – 6 Wks
|
|
11
|
Beta Glucosidase
|
Gaucher’s Disease
|
1 – 2 Wks
|
|
12
|
Hexosaminidase A
|
Tay Sach’s Dis.
|
1 – 2 Wks
|
|
13
|
Hexosaminidase Total
|
Sandhoff Dis.
|
1 – 2 Wks
|
|
14
|
Iduronidase
|
MPS 1
|
1 – 2 Wks
|
|
15
|
Iduronate Sulphatase
|
MPS II
|
1 – 2 Wks
|
|
16
|
Sphingomyelinase
|
Nieman Pick’s Dis. A
|
1 – 2 Wks
|
