--- Query Results --- | |||||||||
| 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: | Tay-Sachs CARRIER Testing (Synonyms: Hexosaminidase A and Total) | ||||||||
| Clinical 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). | ||||||||
| Ordering Alert: | The healthcare professional ordering this test must call the Alberta Children’s Hospital (ACH) Biochemical Genetics Laboratory (403) 955-7379 or the University of Alberta Hospital (UAH) Biochemical Genetics Laboratory (780) 407-8820 at least 24 hours in advance to inform the lab of, and obtain any necessary information pertaining to, location and timing of the collection. When ordering please indicate if patient is Jewish, Ashkenazi Jewish, pregnant, diabetic, on birth control or on estrogen therapy. Testing will ONLY be conducted on adult patients for the purpose of determining carrier status through a physician referral with appropriate genetic counseling services. | ||||||||
| Collection Alert: | Testing requires collections from BOTH partners. | ||||||||
| LABID (Connect Care): | LAB573 | ||||||||
| Test Code: |
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| Specimen Type: | Whole Blood AND Serum | ||||||||
| Primary Container: | Green top Sodium Heparin AND Red Top non additve | ||||||||
| Minimum Collection Volume: | 7 mL whole blood AND 1.5 mL serum | ||||||||
| Specimen Collection Requirements: | Collect two sodium heparin (green top, NOT PST) tubes AND one non-additive (red top, NOT SST) tubes.
For collections at sites other than the above, contact the respective Biochemical Genetics Lab prior to collection for procedure to access testing. | ||||||||
| Test Resources: | Submit request using the applicable requisition or Connect Care online order entry:
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| Stability and Storage: | Room temperature: Maintain sodium heparin tubes at all times. Specimens can be stored at room temperature in the primary tubes for up to 24 hours from the time of collection. Lymphocyte quality (isolated from the green top tubes) drops after 24 hours and/or if not maintained at room temperature. Frozen: serum aliquot | ||||||||
| Processing: | Sodium Heparin Tubes Do NOT centrifuge. Do NOT aliquot. Do NOT refrigerate or freeze. Red Top Tube 1. Allow to fully clot. 2. Centrifuge. 3. Transfer serum to an aliquot tube. 4. Write "Red Top" on the aliquot tube label. 5. Freeze aliquot tube. | ||||||||
| Transportation: | Sodium Heparin Tubes Transport sodium heparin tubes at room temperature. Specimens must NOT be refrigerated during transport. Whole blood specimens must be transported at room temperature to arrive at the UAH Biochemical Genetics by 12:00 or the ACH Biochemical Genetics by 14:00 and within 24 hours of time of collection. If collected on Friday, specimens must be received by Biochemical Genetics on same day. Serum Aliquot Tube Transport frozen specimens on dry ice. Specimens must not thaw during transport. Specimens collected at Alberta Children’s Hospital Call the ACH Biochemical Genetics Lab at (403) 955-7379 for sample pick-up. | ||||||||
| Method: | Fluorometric | ||||||||
| Method and Interpretation of Results: | Total hexosaminidase, as well as fractional and specific hexosaminidase A activities are measured fluorometrically using 4-methylumbelliferyl substrates. Tay-Sachs and Sandhoff carrier status are assessed using activities in both serum and lymphocytes, and these activities are compared to established reference ranges for non-carriers, 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 non-carrier (i.e., the indeterminate) reference ranges also will not allow determination of carrier status. | ||||||||
| Routine Turn Around Time: | 30 days | ||||||||
| Testing Schedule: | Monthly | ||||||||
| Testing Area: | Biochemical Genetics | ||||||||
| Performing Site: | Alberta Children's Hospital | ||||||||
| Additional Test Information: | Priority testing performed on specimens from pregnant females. For priority turn-around contact Biochemical Genetics South Laboratory. | ||||||||
| Contact Comments: | Biochemical Genetics South 403-955-7379 | ||||||||
| Last Updated On: | Monday, August 29, 2022 | ||||||||
| Date of Last Review: | Aug 1 2022 12:00AM | ||||||||
