Tay-Sachs Disease Mutation Analysis
Test Summary
This test is used to identify individuals who are carriers of a TSD mutation. It will also confirm a diagnosis of TSD by identifying those individuals who have two TSD mutations. By testing for Pseudodeficiency Alleles, this assay will identify individuals who have been erroneously identified as carriers, due to false-positive result in the standard enzyme assay for beta-N-acetylhexosaminidase activity.
Aliases
- N/A
Specimen Collection
Special Instructions
Preferred Specimen
Minimum Volume
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission;
2) Documentation of parental carrier status must be provided;
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Patient Preparation
Storage
Transport Temperature
Specimen Stability
- Whole blood (preferred):
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: Unacceptable
- All other specimens
- Room temperature: 48 hours
- Refrigerated: Unacceptable
- Froz
Limitations
Other Acceptable Specimens
Unacceptable Specimens
Order Code
EPIC (Premier) Code
Includes
CPT Code
- 81255
Billing Code
- 700000
CPT Statement
Methodology
FDA Status
Physician Attestation of Informed Consent
Testing Laboratory
33608 Ortega Highway
San Juan Capistrano CA, 92675
Reference Range
Setup Schedule / Expected Turnaround Time
Specimen Collection
Special Instructions
Preferred Specimen
Minimum Volume
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission;
2) Documentation of parental carrier status must be provided;
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Patient Preparation
Storage
Transport Temperature
Specimen Stability
- Whole blood (preferred):
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: Unacceptable
- All other specimens
- Room temperature: 48 hours
- Refrigerated: Unacceptable
- Froz