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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

Day(s) and Time(s) Performed

Tues., Thurs, Sat, a.m

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

CPT Codes

81255

Analytic Time

6 days

Alias/See Also

LAB13074

Message

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.