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: 
95% reported within 51-92 days. Internal audit January - June 2017
Contacts:
Molecular Genetics 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
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 13/10/2017