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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.

Glucocerebrosidase Deficiency | Glucosylceramidase Deficiency | Gaucher Disease Type 1 | Gaucher Disease Type 2 (Acute) | Gaucher Disease Type 3 (Subacute/Chronic) | Gaucher Disease Cardiovascular Form | Gaucher Disease Perinatal-Lethal Form

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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


Gaucher Disease Ashkenazic Mutation Panel
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing, Mutation Testing - General Population
Test Details
Test Code: 6033
Test Includes: c.1226A>G (p.N409S or N370S), c.1448T>C (p.L483P or L444P), c.115+1G>A (IVS2+1 G>A), c.84_85insG (84GG)

Technical Information
Methodology: Allele-specific genotyping by MALDI-TOF mass spectrometry
Gene Name: GBA
Protein Name: Glucosylceramidase
Test Type: Mutation Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81251x1


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