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Department of Pathology

LYSOSOMAL ENZYMES, skin or plasma fibroblasts (087-6718)

Synonyms: a-fucosidase, plasma or skin; a-galactosidase, skin fibroblasts; a-glucosidase, skin fibroblasts

CPT 4 Code: 82131

Test Order Mnemonic: LYSENZ PL (plasma) or LYSENZ SK (skin)

Test Includes: a-Glucosidase, a-Galactosidase,b-Glucosidase, b-Galactosidase, Acid Phosphatase, a-Fucosidase, a-Mannosidase, b-Glucuronidase, Aryl Sulfatse A, Aryl Sulfatase B, N-Acetyl-a-Glucosaminidase, Hexosaminidase A & B, Iduronidase

Lab: Clinical Chemistry

Request Form: Special Chemistry Form 2

Collection: Skin Biopsy: Appropriately obtained

Storage Instructions: Biopsy material should be delivered as soon as possible. It should not be frozen or exposed to temperature extremes or stored for extended time periods (10-12 hours).

Causes for Rejection: Visible microbial contamination, no paperwork, unlabeled tubes, insufficient sample, improper or extended storage of the sample

Availability: Skin biopsy samples can be delivered to Clinical Cytogenetics, Children's Hospital, Room 350, Monday-Friday, 8 AM-4:30 PM.

Turnaround Time: 6-8 weeks

Special Instructions: Fibroblast analysis by appointment only. Cytogenetics- telephone 409-772-3465.

Specimen: Skin fibroblasts

Volume: 2 mm punch

Minimum Volume: 1 mm punch with approval of laboratory director

Container: Capped tube delivered in leak- and puncture-resistant container. Media tubes can be obtained from Clinical Cytogenetics laboratory.

Critical Values: 10% of normal

 

Revised April 2007 by P. Harris

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