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Tay-Sachs Disease Mutation Analysis
Test CodeTSCMA
Alias/See Also
LAB13074
Preferred Specimen
4 mL whole blood
Minimum Volume
3 mL
Transport Temperature
Room temperature
Specimen Stability
Whole blood (preferred):
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Amniotic fluid/chorionic villus (acceptable):
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Call lab if whole blood is received frozen
Methodology
Allele-Specific Primer Extension • Fluorescent Detection Using Color Coded Microspheres • Polymerase Chain Reaction (PCR)
Setup Schedule
Tues., Thurs, Sat, a.m
Report Available
6 days
Reference Range
See Laboratory Report
Last Updated: February 16, 2023