Tay-Sachs disease, leukocytes

Alphabetical Test listing

Tay-Sachs disease, leukocytes-13561

  
Tay-Sachs disease, leukocytes
  
13561
  
LAB13561
  
TAYSACHSL
  
Beta-hexosaminidase A and total Beta-hexosaminidase from leukocytes
GM2
Gangliosidosis
  

Identification of Tay-Sachs disease gene carriers and affected individuals.

  

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.

  
ACD whole blood
  

Yellow ACD (A or B)

 

  
10 mL
  
5 mL
  

Immediatley following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

  
  • Refrigerate after collection; do not allow sample to freeze.
  • Sample must arrive at the testing laboratory within 4 days of collection.
  

Yellow ACD (A or B) tube(s)

  
  

Time sensitive. Specimen must arrive at the testing laboratory within 4 days of collection.

Refrigerated - 4 days

Frozen - NO

  
  • Quantity not sufficient for analysis
  • Frozen specimen
  • Specimen not received within 4 days of collection
  • Incorrect specimen collection tube
  • Gross hemolysis
  • Unable to isolate viable white blood cells
  
LabCorp RTP (511246): R-LC
  
3x / wk
  
4 days
  

Determination of enzymatic activity using heat inactivation

  

An interpretive report will be provided

  
83080
  
Result UNLOINC
  
04/11/2019
  
04/11/2022
  
04/11/2022