Confirmation / exclusion of familial mutation
- Description
- Targeted analysis for a specific mutation already identified within a family. Methodology used will depend on the mutation / disorder.
- Clinical details
- Once the causative mutation of a hereditary disorder is identified it is usually straight forward to screen other family members to determine whether they have inherited the mutation or not. This allows a definitive clinical diagnosis or excludes the disorder within an individual.
- Related condition
- Reference range
n/a
- Units
- n/a
- Testing site
- Synnovis : Genomics : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- 1 x Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 14 days
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 020 7188 2798
Haemostasis and Thrombosis
North Wing – 4th floor
St Thomas’ Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday – Friday 09.00 – 17.00