Hexosaminidase A and Total, Leukocytes/Molecular Reflex
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If hexosaminidase A is <63%, then TSDP / Tay-Sachs Disease, Mutation Analysis, HEXA will be added and performed at an additional charge.
Tay-Sachs Disease Carrier Testing Protocol
Tay-Sachs and Related Disorders Diagnostic Testing Algorithm
Specimen Type Describes the specimen type needed for testing
Whole Blood ACD
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.
Specimen must arrive within 96 hours of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions: Do not transfer blood to other containers.
1. Biochemical Genetics Patient Information (T602) in Special Instructions
2. 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.
3. If not ordering electronically, complete, print, and send a Molecular Genetics Request Form (T245: available from the supply catalog)
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; Gross reject
Specimens >96 hours old
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole Blood ACD||Refrigerated (preferred)||4 days|