Hexosaminidase A and Total Hexosaminidase, Serum
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
Tay-Sachs Disease Carrier Testing Protocol
Tay-Sachs and Related Disorders Diagnostic Testing Algorithm
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Preferred: Red top
Acceptable: Serum gel
Specimen Volume: 1 mL
1. Serum assay results are not valid on pregnant females and will not be run. If carrier screening for Tay-Sachs or Sandhoff disease is desired in a pregnant female and testing was not performed prior to pregnancy, refer to NAGR / Hexosaminidase A and Total, Leukocytes/Molecular Reflex or NAGW / Hexosaminidase A and Total Hexosaminidase, Leukocytes for testing on the patient or partner.
2. The recommended test for Tay-Sachs carrier screening (regardless of gender or pregnancy status) is NAGR / Hexosaminidase A and Total, Leukocytes/Molecular Reflex.
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
2. If not ordering electronically, complete, print, and send a Neurology Test Request Form-General (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)
3. Biochemical Genetics Patient Information (T602) in Special Instructions.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Mild OK; Moderate/Gross OK
Mild OK; Gross OK
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Serum||Frozen (preferred)||30 days|