Red Cell Gene Panel
Red cell gene panel performance metrics:
Sequence variants detected using the red cell gene panel are assigned a pathogenicity class from 1-5 according to the ACGS Best Practice Guidelines for Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics (2013), where class 1 is clearly not pathogenic and class 5 is clearly pathogenic. Only class 3, 4 and 5 variants are reported.
For each gene in the sub-panel requested, only the exons +/- 20bp are analysed.
This testing strategy has been shown through validation to have a detection sensitivity of ≥97.6% with 95% confidence interval for single nucleotide variants. Indels and larger structural variants are analysed, however the sensitivity for detection is currently unknown. When further validation data is available this will be updated.
Clotted samples are unsuitable for DNA analysis.
Blood Samples in in correct anticoagulant tubes may be rejected.
We accept DNA samples. Please provide at least 3-5µg of purified DNA
Please state if a pregnancy is involved as antenatal work is prioritised. Please provide full blood count (FBC), HPLC screening results, iron levels and markers of haemolysis plus a blood film, if available.
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
London SE5 9RS
Last updated: 15/01/2020