Renal Disorders 220 Gene Exome Panel (Updated to 244 genes)

Description: 
Inherited kidney diseases can present in a variety of different ways, from painless blood and/or protein in the urine to painful stones or the general malaise that occurs when kidneys fail. Many inherited kidney disorders lead to renal failure at a young age, including in childhood, and life expectancy may be significantly reduced. Renal replacement therapies such as dialysis or a transplant may be possible in some cases, but are inevitably associated with various risks and complications. The burden of living with renal failure is huge as the quality of life may be significantly impaired, and the cost of providing long term care is huge.
Synonyms or keywords: 
WES, Exome Sequencing, Whole Exome Sequencing, Clinical Exome, Gene Panel
Department: 
Sample type and Volume required: 
3ml EDTA blood or 10-15ug genomic DNA
Turnaround time: 
68% reported within 230 days. Internal audit July - September 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