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Program:Genetics and Genomics
 
Test Name:Hexosaminidase (G&G South ACH)
Test Code:HEX-S
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
 
Availability:Test performed on a monthly basis.
TAT:30 days
 
Preferred Tube/Container:Non-additive (red top - NOT SST)
 
Specimen Requirements:Collect 1 x 4.0 mL non-additive red top tube.
 
Min. Sample Required:0.5 mL serum
 
Specimen Processing:1. Centrifuge.
2. Transfer serum to aliquot tube.
3. Write "Red Top" on the aliquot tube label.
4. Freeze.
 
Specimen Handling:Transport frozen samples on ice. Samples must not thaw during transport.
 
Additional Information:Samples will be rejected if:
  • Aliquot received thawed
  • Tube type not written on aliquot tube label
  • Plasma or urine sample submitted
  •  
    Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
     
    Order Restrictions:For preconception testing for Tay-Sachs and Sandhoff disease carrier status, see Tay-Sachs CARRIER Testing (ACH).
     
    Indications:This test is used for the diagnostic investigation of Tay-Sachs or Sandhoff disease in a patient based on clinical presentation.
    Method:Hexosaminidase activity is measured fluorometrically using a 4-methylumbelliferyl-linked substrate.
    Reference Interval:
    Test DescriptionControl Range    UnitsAge Range (mths)
    Total Hexosaminidase    885 – 2996nmol/hr/ml         0 – 18
    Total Hexosaminidase    666 – 1875nmol/hr/ml       18 – 192
    Total Hexosaminidase    696 – 1579nmol/hr/ml      192 – 480
    Total Hexosaminidase    714 – 1967nmol/hr/ml          >480

    Test DescriptionControl RangeUnitsAge Range (mths)
    Hexosaminidase A       45 – 78  %         0 – 18
    Hexosaminidase A       54 – 80   %       18 – 192
    Hexosaminidase A       50 – 82   %      192 – 480
    Hexosaminidase A       53 – 81   %          >480

    Test DescriptionControl Range    UnitsAge Range (mths)
    4-MUGS Hex A       1.5 – 4.0nmol/min/ml         0 – 18
    4-MUGS Hex A       1.0 – 3.0nmol/min/ml       18 – 192
    4-MUGS Hex A       1.3 – 2.7nmol/min/ml      192 – 480
    4-MUGS Hex A      1.25 – 3.3nmol/min/ml          >480
     
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
     
     
    Last Updated On:Tuesday, May 22, 2018
    Date of Last Review:Jan 2 2018 12:00AM