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Program:Genetics and Genomics
Test Name:Tay-Sachs CARRIER Testing (G&G South ACH)
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
Availability:Monthly, with priority testing being performed on samples from pregnant females.
TAT:30 days
Preferred Tube/Container:See Specimen Requirements
Specimen Requirements:Collect 2 x 4 mL Non-additive (red top - NOT SST) tubes AND
             3 x 4 mL Sodium heparin (dark green - NOT PST) tubes.
Min. Sample Required:3 mL serum AND 7 mL whole blood
Specimen Processing:Serum Sample:
1. Centrifuge.
2. Transfer serum to an aliquot tube.
3. Write "Red Top" on the aliquot tube label.
4. Freeze.

Whole Blood Sample
Do NOT centrifuge. Do NOT aliquot. Do NOT refrigerate or freeze.
If the sample needs to be stored following draw, store whole blood in original tube on benchtop at room temperature.
Primary tube must remain at room temperature at all times.
Specimen Handling:Serum Sample:
Transport frozen samples on ice. Samples must not thaw during transport.

Whole Blood Sample:
Transport primary specimen tubes at room temperature. Samples must NOT be refrigerated during transport.

If samples are collected at ACH: Immediately transport to ACH Biochemical Genetics Lab or call ACH Biochemical Genetics Lab (403-955-7379) for sample pick-up.

If samples are not collected at ACH: Whole blood sample must be transported at room temperature to arrive in ACH by 1400hr and within 24 hours of time of collection, as lymphocyte quality (isolated from the green top tubes) drops after 24 hours and/or if not maintained at room temperature. Serum sample can be refrigerated in primary tube (following clotting) prior to freezing in an aliquot tube.
Additional Information:This test must be booked with the ACH Biochemical Genetics Lab (403-955-7379) at least 24 hours in advance.

Collections are recommended to be done at the ACH Outpatient Lab between 8:00 and 14:00 weekdays, as a member of the ACH Biochemical Genetics Lab will be required to retrieve and prepare the sample.
For collections at sites other than ACH: Contact ACH Biochemical Genetics Lab (403-955-7379) prior to collection for procedure to access testing.
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.

Physicians only: Please indicate on requisition if patient is Jewish, Ashkenazi Jewish, pregnant, diabetic, on birth control or on estrogen therapy.
Order Restrictions:This test will not be performed on minors.

Testing requires serum AND whole blood sample collections from BOTH partners (e.g. husband AND wife) and will ONLY be conducted through a physician referral with appropriate genetic counseling services.
Indications:This test is NOT appropriate for patients with a suspected diagnosis of Tay-Sachs or Sandhoff disease. For diagnostic testing for these disorders, please see Hexosaminidase (ACH).
Method:Total hexosaminidase, as well as fractional and specific hexosaminidase A activities are measured fluorometrically using 4-methylumbelliferyl substrates.
Method Details:TaySachs and Sandhoff carrier status are assessed using activities in both serum and lymphocytes, and these activities are compared to established reference ranges for noncarriers, Tay Sachs carriers, Sandhoff carriers and pregnant females. Either serum or lymphocyte total hexosaminidase activities that fall outside of the established ranges cannot be used to determine carrier status using that specimen type. Activities that fall within a known overlap between Tay-Sachs carrier and noncarrier (i.e., the indeterminate) reference ranges also will not allow determination of carrier status.
Reference Interval:Provided on test report.
Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
Last Updated On:Tuesday, September 12, 2017
Date of Last Review:Jan 2 2018 12:00AM