Leukocyte Lysosomal Enzyme (Time Sensitive) Screen


Sunquest Code:WBCLE  
Epic Code:LAB4347Epic Name:WBC Leukocyte Enzymes
Synonyms:Alpha-D-Glucosidase; Alpha-Galactosidase; Alpha-Glucosaminidase; Alpha-L-Fucosidase; Alpha-L-Iduronidase; Alpha-Mannosidase; Arylsulfatase A; Beta-Galactosidase; Beta-Glucosidase; Beta-Glucuronidase; Beta-Hexosaminidase; Galactocerebrosidase; WBC Enzymes; Metachromatic Leukodystrophy; Murolipidosis; Beta-Mannosidase; Sialidase; Sphingomyelinase
Methodology:Enzyme activity
CPT Code:82657
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur if received by 1300; results are reported within 14 days.
Special Instructions:

A clinical history of the case must accompany the sample, including:

1.        Patient’s full name, date of birth, home addresses and patient identification number(s).

2.        Name of referring physician and contact information.

 

 



Collection Instructions

Specimen:Blood
Optimal Volume:8 mL
Minimum\Peds Volume:2 mL
Causes for Rejection:Specimen clotted.


Processing and Shipping

Specimen Processing:Store whole blood at room temperature.
Shipping Instructions:Ship at room temperature. Must arrive within 24 hours of collection. Patient history must be sent with sample.
Test Performed at or Referral Lab Lab Sendouts  (Jefferson Medical College-Lysosomal Disease Testing Lab)
Referral Lab number:na


Interpretive

Reference Range:By report
Use:

Diagnosis and carrier testing for GM 1 and 2 gangliosidosis, fucosidosis. a and b-mannosidosis, mucopolysaccharidosis VII, metachromatic leukodystrophy, Krabbe disease, Niemann-Pick Types A, B, and C, multiple sulfatase deficiency, Gaucher’s disease, Hurler-Scheie syndromes, Fabry disease, Maroteaux-Lamy syndrome, Sialidosis, galactosilidosis, sialuria, sialic acid storage disease, mucolipidosis II and III, Sanfilippo type B,  Wolman disease and Farber disease.

 



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