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
Download additional information >
Sending address
Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 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.