Test Name & Code:
• Test Name: GAUCHER GBA Gene Sequencing
• Test Code: 4054
• Test Code: 4054
Related Diseases & Genes:
• “Gaucher disease, type I” (OMIM #: 230800) || Gene: GBA (OMIM #: 606463)
• “Gaucher disease, type II” (OMIM #: 230900)
• “Gaucher disease, type III” (OMIM #: 231000)
• “Gaucher disease, type IIIC” (OMIM #: 231005)
• “Gaucher disease, perinatal lethal” (OMIM #: 608013)
• “Gaucher disease, type II” (OMIM #: 230900)
• “Gaucher disease, type III” (OMIM #: 231000)
• “Gaucher disease, type IIIC” (OMIM #: 231005)
• “Gaucher disease, perinatal lethal” (OMIM #: 608013)
Synonyms:
• ACID BETA-GLUCOSIDASE
• “GLUCOSIDASE, BETA, ACID”
• “BETA-GLUCOSIDASE, ACID”
• BETA-GC
• GLUCOCEREBROSIDASE
• GLUCOSYLCERAMIDASE
• “GLUCOSIDASE, BETA, ACID”
• “BETA-GLUCOSIDASE, ACID”
• BETA-GC
• GLUCOCEREBROSIDASE
• GLUCOSYLCERAMIDASE
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
• Inborn Errors of Metabolism
• Inborn Errors of Metabolism
