ASETİL-CoA AG A.TRANSFERAZ, Lökosit

Test Details

Asetil-CaA-alfa-glukozamin asetil-transferaz (Asetil-CoA AG A.Transferaz, acetyl-CoA: alpha-glucosaminide N-acetyltransferase) enzim eksikliği sonucu oluşan lizozomal depo hastalıklarından olan Mukopolisakkaridoz tip IIIC'nin (MPS IIIC, Sanflippo Sendromu tip C) tanısında kullanılır.

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Test Name	ASETİL-CoA AG A.TRANSFERAZ, Lökosit
Synonym	HGSNAT, MPS 3C, MPS IIIC, Sanfilippo C, Acetyl-CoA: alpha-glucosaminide N-acetyltransferase, Mukopolisakkaridoz tip IIIC
Working Days	N/A
Result Time	N/A
Specimen Type	EDTA'lı Tam Kan, Alt Tür Yok, -
Specimen Amount	5, mL
Specimen Container	--
Specimen Features	N/A
Last Specimen Acceptance Time	N/A
Patient Preparation	N/A
Method