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HelpTest Code LAB2839 Beta Galactosidase
Clinical System Name
Beta Galactosidase
Synonyms
B Gal GM1
GM1 Gangliosidosis
Beta Gal
Sample Requirements
Specimen: Whole Blood
Container(s): Yellow/ACD A or B, Dark Green/Sodium Heparin Tube
Preferred Vol:10.0 mL
Minimum Vol: 6.0 mL
Note: Also acceptable: cultured cells from skin fibroblasts (2 confluent T-25 flasks)
Do NOT use gel separator tubes.
Processing Instructions
Reject due to:
Spin: N
Aliquot:N
Temp:RT
Storage location: Biochemical Genetics Box- RT
Weekend Processing: Contact Chem West (x72565) on dayshift. If Chemistry team is unavailable, sample should be stored in RT Biochemical Genetics box.
Off-site collection: Do not spin! Keep at room temperature. Transport Mon-Thurs at room temperature via overnight shipping.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Room temp |
≤24 hrs |
|
| Refrigerated | < 24 hrs |
Samples received > 24 hr after blood collection will still be processsed and test performed if possible.
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Weekly | 7-10 days |
Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82657
Methodology
Method: 4 Mu Fluorometric assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range (nmol/hr/mg protein) |
|
WBC |
58-225 |
| FB (Fibroblast) | 150-475 |
Description
Fluorometric enzyme test for beta galactosidase for diagnosis of GM 1 gangliosidosis.
Clinical Utility
Deficiency of beta-galactosidase is supportive of a diagnosis of
GM1 gangliosidosis. GM1 gangliosidosis may present as early
infantile, late infantile, and adult onset.
Infantile forms present with symptoms including seizures,
hepatosplenomegaly, coarse facial features, skeletal
irregularities, joint stiffness, muscle weakness and exaggerated
startle response to sound. Cherry-red spots in the eyes are common.
Adult onset disease may present with muscle atrophy, corneal
clouding,dystonia, and without hepatosplenomegaly.
This test is not appropriate for determining carrier status or for prenatal diagnosis.
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)