Hexosaminidase A and B - diagnostic
Description:
Fluorimetric enzyme assay
Reference range:
Simultaneous assay controls quoted
Synonyms or keywords:
Lysosomal, Sphingolipidosis, Hexosaminidase, Tay Sachs, Tay-Sachs, Sandhoff, GM2-gangliosidosis
Department:
Location:
Sample type and Volume required:
5 - 10 ml lithium heparin blood, Cultured cells, Prenatal diagnosis available
Call in advance:
No
Turnaround time:
2 weeks from blood sample, additional 3 to 8 weeks (minimum) from cultured cells or skin biopsy (respectively)
Storage and transport:
Blood samples should reach the laboratory within 24 hours of collection; do not freeze or separate.
Contacts:
Biochemical Genetics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT
T: 020 7188 2591/2592
F: 020 7188 7275
E: ViapathBiochemicalGenetics@gstt.nhs.uk
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT
T: 020 7188 2591/2592
F: 020 7188 7275
E: ViapathBiochemicalGenetics@gstt.nhs.uk
Laboratory:
Last updated: 07/08/2015