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Tay-Sachs Disease Carrier Testing

Referred out for testing

Source Blood
Mnemonic BGLBL

BGL Test Name field: Tay-Sachs
 
Specimen Requirements

This test is not available for patients under 18 years of age.

2 x 4 mL red top tubes, NOT SST
AND 
3 x 4 mL dark green top sodium heparin tubes, NOT PST, whole blood

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.

Specimen Handling Do NOT centrifuge; do NOT refrigerate or freeze.

Send tubes at room temperature.
Send specimen in a separate bag with a photocopy of the requisition.

Extra-regional: Contact ACH Biochemical Genetics Lab prior to collection (403-955-7379) for procedure to access testing. Collection at ACH Outpatient Lab is strongly preferred (see Additional Information).
Additional Information

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. 

This test is not available for patients under 18 years of age.
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.

Physicians only: Please indicate on requisition if patient is Jewish, Ashkenazi Jewish, pregnant, diabetic, on birth control or on estrogen therapy.

Extra-regional: Collection at ACH Outpatient Lab is strongly preferred as lymphocyte quality (isolated from the green top tubes) drops after 24 hours and/or if not maintained at room temperature.
 

Testing Location ACH Biochemical Genetics Lab
Testing Frequency Monthly, with priority testing being performed on samples from pregnant females.
 
Alternate Name(s)
Reference Interval Provided on test report.