Description
Testing is now available using a supplemented clinical exome. This test targets around 5000 known disease-causing genes. We have developed curated virtual panels covering a wide range of genetically heterogenous conditions
Also known as
GOSHome; Clinical exome
Request a test
When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
Additional information
Next generation sequencing with various sub-panels. For additional information please click on the link
Sending address
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH
Laboratory service
Genetics
Sample requirements
1ml EDTA neonates, 5ml EDTA adults
Reference range
Not applicable
Turnaround time
80 days
Disease / group
Clinical exome, various sub-panels
Cost
Upon request
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible.