Test Name & Code:
• Test Name: Tay-Sachs Disease Genetic Test (HEXA Gene)
• Test Code: 4827
• Test Code: 4827
Related Diseases & Genes:
• Tay-Sachs disease (OMIM #: 272800) || Gene: HEXA (OMIM #: 606869)
• “GM2-gangliosidosis, several forms” (OMIM #: 272800)
• “GM2-gangliosidosis, several forms” (OMIM #: 272800)
Synonyms:
• Hexosaminidase A
• HEXA Mutations
• Hexosaminidase A Mutations
• HEXA Mutations
• Hexosaminidase A Mutations
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 1 week
• Performed: Everyday
• Reported: 1 week
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism
