Test Code TSCMA Tay-Sachs Disease Mutation Analysis
Specimen Required
4 mL whole blood
Specimen Minimum Volume
3 mL
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
Rejection Due To
Call lab if whole blood is received frozen
Report Available
6 days
Method Name
Allele-Specific Primer Extension • Fluorescent Detection Using Color Coded Microspheres • Polymerase Chain Reaction (PCR)
Collection Container / Tube
Preferred: EDTA (Lavendar-top)
Other Acceptable Container: ACD solution
A (yellow-top), ACD solution B
(yellow-top), EDTA (royal blue-top),
sodium heparin (green-top) or lithium heparin (green-top) Amniotic
fluid Cultured amniocytes Chorionic villus sampling
Transport / Storage Conditions
Room temperature
Special Instructions
Whole blood
(preferred): Normal phlebotomy procedure. Specimen
stability is crucial. Store and ship room temperature
immediately.
Do not freeze.
For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations
tested;
2) maternal blood or DNA must be
available;
3) contact the laboratory genetic counselor before submission.
Amniotic fluid (acceptable): Normal collection procedure.
Specimen stability is crucial.
Store and ship room temperature immediately. Do not
refrigerate or freeze.
Amniocyte culture (acceptable): Sterile T25 flask,
filled with culture medium.
Specimen stability is crucial. Store and ship room temperature
immediately. Do not refrigerate or
freeze.
Dissected chorionic villus (CVS)
biopsy (acceptable): 10-20 mg dissected chorionic villi
collected in sterile tube filled with sterile culture
media.
Specimen stability is crucial. Store and ship room temperature
immediately. Do not refrigerate or
freeze.
Reference Values
See Laboratory Report
Day(s) Performed
Tues., Thurs, Sat, a.m
CPT Codes
81255
Alias/See Also
LAB13074