Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Hexosaminidase (Synonym: Tay-Sachs Disease Testing, Sandhoff Disease)

Clinical Indications:

This test is used for the diagnostic investigation of Tay-Sachs or Sandhoff disease in a patient based on clinical presentation.

Ordering Alert:

For preconception testing for Tay-Sachs and Sandhoff disease carrier status, see Tay-Sachs CARRIER Testing.

LABID (Connect Care):

LAB543

Test Code:

CALGARY ZONE	BGLBL; IN THE BGL TEST NAME PROMPT ENTER HEXOSAMINIDASE
EDMONTON ZONE	HEXO
SOUTH ZONE, LETHBRIDGE	HEX
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Blood

Primary Container:

Red top – Non-additive (no gel)

Minimum Collection Volume:

1.5 mL serum

Specimen Collection Requirements:

Collect one red top tube (non-additive, not SST).

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Frozen: serum aliquot

Processing:

1. Allow specimen to fully clot.
2. Centrifuge.
3. Transfer serum to aliquot tube.
4. Write "Red Top" on the aliquot tube label.
5. Freeze aliquot tube.

Transportation:

Transport frozen specimen on dry ice.
Specimen must not thaw during transport.

Method:

Fluorometric

Method and Interpretation of Results:

Hexosaminidase activity is measured fluorometrically using a 4-methylumbelliferyl-linked substrate.

Routine Turn Around Time:

30 days

Testing Schedule:

Monthly

Reference Interval:

Enyzme	Control Range	Units	Age (months)
Total Hexosaminidase	885 - 2996	nmol/hr/mL	0 - 18
	666 - 1875	nmol/hr/mL	18 - 192
	696 - 1579	nmol/hr/mL	192 - 480
	714 - 1967	nmol/hr/mL	Greater than 480
Hexosaminidase A	45 - 78	%	0 - 18
	54 - 80	%	18 - 192
	50 - 82	%	192 - 480
	53 - 81	%	Greater than 480

Testing Area:

Biochemical Genetics

Performing Site:

Alberta Children's Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics South Laboratory.

Contact Comments:

Biochemical Genetics South 403-955-7379

Last Updated On:

Monday, August 15, 2022

Date of Last Review:

Aug 1 2022 12:00AM