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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Gaucher Disease tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Enzyme Analysis Beta-Glucosidase Enzyme Analysis
Test Code: 4554
Mutation Analysis Gaucher Disease Ashkenazic Mutation Panel
Test Code: 6033
Gaucher Disease Ashkenazic Mutation Panel
Test Code: 6033


Beta-Glucosidase Enzyme Analysis
Test Information: This test provides enzymatic analysis of Beta-Glucosidase for Confirmation of Clinical Diagnosis.
Test Details
Test Code: 4554
Special Notes: The Preferred Sample Type for this assay Skin Fibroblasts (#4553).

Results from this test are not useful for Carrier Testing. Please note, carriers may have Beta-Glucosidase levels in the normal range.

Technical Information
Methodology: Fluorimetric
Gene Name: GBA
Protein Name: Glucosylceramidase
Test Type: Enzyme Analysis
References Values or Ranges: Normal Range:
White Blood Cells: 98-208 pmol/min/mg protein
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: White Blood Cells (WBC)
Requirements: Draw blood in an ACD (yellow-top) tube(s) and send 7-10 cc (Adults/Children) and 3-5 cc (Infant<2yrs)
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82963 x 1, 84155 x 1


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