Leukocyte Lysosomal Enzyme (Time Sensitive) Screen
Abbrev Code: | WBCLE | ||
Order Code: | LAB4347 | Order 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 Codes: | 82657 x1 | ||
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:
Time Sensitive Handling Required:
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Associated Links: |
Collection Instructions
Specimen: | Blood |
Optimal Volume: | 8 mL |
Minimum\Peds Volume: | 2 mL |
Container: | Purple (EDTA) Alternate Containers: 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. A completed Jefferson Clinical History Form must be sent with sample. See Associated Links. |
Stability: |
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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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