Tay-Sachs carrier testing by heat inactivation

Description: 
Fluorimetric enzyme assay
Related condition or disease: 
Tay-Sachs, hexosaminidase, GM2-gangliosidosis
Reference range: 

Contact laboratory

Synonyms or keywords: 
Lysosomal, Sphingolipidosis, Tay Sachs, Hexosaminidase, carrier testing, Ashkenazi Jewish, Tay-Sachs
Department: 
Genetics Department
Location: 
Guy's Hospital
Sample type and Volume required: 
5-10 ml lithium heparin blood, 5ml clotted blood (not required for pregnant women), 5 ml EDTA blood for DNA testing
Call in advance: 
No
Turnaround time: 
2 weeks
Criteria for acceptance / rejections of sample
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
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Biochemical Genetics Laboratory at Guy's

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Last updated: 07/08/2015