Laboratory Medicine
Test catalogue
Tay-Sachs Enzyme Screening (TSD, B-Hexosaminidase A deficiency, HEXA deficiency) | |
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Test NameTay-Sachs Enzyme Screening (TSD, B-Hexosaminidase A deficiency, HEXA deficiency) |
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Specimen Type / RequirementsContainer Type = 1 Green top (LiHep) and 1 Red Top Minimum Testing Volume: 5mL on Red Top and 5-7 mL on green top. Tube must fill to at least ½ or greater of its vacuum capacity |
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Specimen HandlingCollection Instructions: Collect 1 green top and 1 red top for enzyme screening. Write your initials, date and time of collection on the collection label or requisition. Note: Collect 1 lavender top if test requested is Tay-Sachs Genetics Screening. This Information should be indicated in the requisition. Special Instructions The specimen should be shipped on a Monday, to Thursday so that the Laboratory will receive the specimen within 24 hours after collection. Ship at room temperature. Blood samples at room temperature must be received within 24 hours after collection, arriving at SickKids by 1200hr (noon) Rejection Criteria: Serum , Plasma, Frozen, Sample more than 24hrs old. Unlabeled or Not Sufficient Quantity Samples will be rejected. Stability: Stable at room temperature for 24hrs Transportation: Send sample to core lab as soon as possible. Ship Monday – Friday only, excluding statutory holidays. Do NOT freeze or refrigerate blood |
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Required Documentation |
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Turnaround Time (TAT)2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine) |
Test Utilization |
Reference ValueSee Report |
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Test CodeTAY |
MethodTargeted analysis of recurrent mutations |
Testing LocationReferred Out – ON, Canada (ROSK01) |
Other Information
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