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
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
Container:Green (sodium heparin, no gel)
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.
Stability:

 

Lyosomal Disease Testing Lab

Jefferson Alumni Hall, Room 346

1020 Locust Street, Philadelphia, PA 19107-5541

Attn: Dr. Wenger

215-955-4923

 

Screen includes:

Enzyme Activity:                          Testing for Disease:

Beta-galactosidase

GM1 gangliosidosis

Beta-mannosidase

Beta-Mannosidosis

Alpha-L-fucosidase

Fucosidosis

Alpha-mannosidase

Alpha-Mannosidosis

Beta-glucuronidase

Mucopolysaccharidosis VII

Beta-hexosaminidase A

Tay-Sachs & variants

Arylsulfatase A

Metachromatic leukodystrophy

Galactocerebrosidase

Krabbe disease

Sphingomyelinase

Niemann-Pick disease, Types A&B

Glucocerebrosidase

Gaucher disease

Alpha-L-iduronidase

Mucopolysaccharidosis I

 

Sialidosis,Sialuria, SASD

Sialidase

Sialidosis (fibro only)

Arylsulfatase B

Maroteaux-Lamy syndrome

Alpha-galactosidase

Fabry disease

Alpha-glucosaminidase

Sanfilippo type B

Beta-hexosaminidase
(Total & %A)

Sandhoff & Tay Sachs

Tests for individual patients are selected based upon clinical features, previous laboratory and/or radiologic findings, family history and physician suggestions. Further studies may be indicated by the results of our preliminary testing.

 

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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