Test Details
Methodology
Determination of enzymatic activity using heat inactivation
Result Turnaround Time
4 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Use
Identification of Tay-Sachs disease gene carriers and affected individuals
Special Instructions
Specimens must arrive in lab within four days of collection.
Limitations
This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
References
Specimen Requirements
Specimen
Whole blood
Volume
10 mL
Minimum Volume
5 mL
Container
Yellow-top (ACD) tube
Collection Instructions
Refrigerate after collection. Transport to the testing lab using cool pack or Labcorp transport kit. Do not allow sample to freeze. Sample must arrive in the laboratory within four days of collection.
Stability Requirements
Temperature | Period |
|---|---|
Refrigerated | 4 days |
Storage Instructions
Refrigerate.
Causes for Rejection
Quantity not sufficient for analysis; frozen specimen; specimen not received within fours days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate viable white blood cells
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450886 | Hexosaminidase A Activity | % | 23825-3 |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450885 | Total Activity | nmol/hr/mg prt | 24075-4 |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 511249 | Tot Act of Norm Ctrl | nmol/hr/mg prt | N/A |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450887 | Interpretation | 8251-1 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 510418 | Methodology | 49549-9 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 512250 | Disclaimer: | N/A | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450215 | Comments | 48767-8 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450216 | Expected Carrier range P/S | 19147-8 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450217 | Expected Carrier Range WBC | 19147-8 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450218 | Expected Non-Carrier Range P/S | 19147-8 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450219 | Expected Non-Carrier Range WBC | 19147-8 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450888 | Director Review | 59462-2 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450220 | Specimen Type | 31208-2 | |
| 511246 | Tay-Sachs Disease Leukocytes | 24075-4 | 450221 | Tay-Sachs Disease Analysis | N/A | |
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450886 | |||||
| Result Code Name | Hexosaminidase A Activity | |||||
| UofM | % | |||||
| Result LOINC | 23825-3 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450885 | |||||
| Result Code Name | Total Activity | |||||
| UofM | nmol/hr/mg prt | |||||
| Result LOINC | 24075-4 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 511249 | |||||
| Result Code Name | Tot Act of Norm Ctrl | |||||
| UofM | nmol/hr/mg prt | |||||
| Result LOINC | N/A | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450887 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 510418 | |||||
| Result Code Name | Methodology | |||||
| UofM | ||||||
| Result LOINC | 49549-9 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 512250 | |||||
| Result Code Name | Disclaimer: | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450215 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | 48767-8 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450216 | |||||
| Result Code Name | Expected Carrier range P/S | |||||
| UofM | ||||||
| Result LOINC | 19147-8 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450217 | |||||
| Result Code Name | Expected Carrier Range WBC | |||||
| UofM | ||||||
| Result LOINC | 19147-8 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450218 | |||||
| Result Code Name | Expected Non-Carrier Range P/S | |||||
| UofM | ||||||
| Result LOINC | 19147-8 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450219 | |||||
| Result Code Name | Expected Non-Carrier Range WBC | |||||
| UofM | ||||||
| Result LOINC | 19147-8 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450888 | |||||
| Result Code Name | Director Review | |||||
| UofM | ||||||
| Result LOINC | 59462-2 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450220 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | 511246 | |||||
| Order Code Name | Tay-Sachs Disease Leukocytes | |||||
| Order Loinc | 24075-4 | |||||
| Result Code | 450221 | |||||
| Result Code Name | Tay-Sachs Disease Analysis | |||||
| UofM | ||||||
| Result LOINC | N/A |