α-Galactosidase A Deficiency, Leukocytes
Also known as: Fabry Disease
Use
Diagnosis of patients with Fabry disease
Special Instructions
Specimens must arrive in the laboratory within four days of collection. It is important to refrigerate the specimen after collection and ensure it is transported using a cool pack or LabCorp transport kit. Do not freeze the sample. If the specimen is not received within four days of collection, it may lead to rejection.
Limitations
The test results may not accurately reflect carrier status of Fabry disease in females due to random X-chromosome inactivation. Specimen conditions such as gross hemolysis, inappropriate collection tube, or insufficient specimen quantity may also affect test results or lead to rejection.
Methodology
Other
Biomarkers
LOINC Codes
- 24049-9
- 24049-9
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
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 the sample to freeze. Sample must arrive in the laboratory within four days of collection.
Storage Instructions
Refrigerate.
Causes for Rejection
Quantity not sufficient for analysis; specimen frozen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate white blood cells
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 4 days |