Tay-Sachs carrier testing by heat inactivation
- Description
- Fluorimetric enzyme assay
- Related condition
- Reference range
- Contact laboratory
- Synonyms
- Lysosomal, Sphingolipidosis, Tay Sachs, Hexosaminidase, carrier testing, Ashkenazi Jewish, Tay-Sachs
- Testing site
- Synnovis : Reference Services : Guy's Hospital
- Laboratory
- Biochemical Genetics
- 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
- Storage and transport
- Blood samples should reach the laboratory within 24 hours of collection; do not freeze or separate.
- Turnaround time
- 2 weeks
- Contacts
Biochemical Genetics Laboratory at Guy’s Hospital
Phone: 020 7188 2592
Email: MetabolicEnzymes@synnovis.co.uk
Genetics Department
Tower Wing – 5th Floor
Guy’s Hospital
Great Maze Pond
London SE1 9RT