Alport syndrome

Description: 
Next Generation Sequencing (NGS) of COL4A3, COL4A4, COL4A5, COL4A6 and NPHS2 to detect point mutations and copy number variants.
Synonyms or keywords: 
COL4A3, COL4A4, COL4A5, COL4A6 and NPHS2
Department: 
Turnaround time: 
8% reported within 56 days. Internal audit July - September 2019. We have had a backlog of reporting, which is being cleared in October 2019.
Contacts:
Monogenics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 2582/1696
F: 020 7188 7273
E: dnadutyscientist@viapath.co.uk; gst-tr.viapathgeneticsoffice@nhs.net
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 11/10/2019