Unexplained Anaemia


We offer a rapid, comprehensive diagnostic test for unexplained anaemias using targeted next-generation resequencing. This offers clinicians a one-stop cost effective test which screens rare and common mutations causing congenital anaemias including Diamond-Blackfan anaemia, CDA (congenital dyserythropoietic anaemia), sideroblastic anaemia, Schwachman-Diamond syndrome, and red cell membranopathies or enzymopathies. We aim to report results with an 8-week turnaround time. Patients without mutations in the genes covered on the panel can be considered for further genetic analysis such as exome sequencing on a research basis upon discussion.​​

Congenital Dyserythropoietic Anaemia​
C15orf41, CDAN1, SEC23B, KLF1, GATA1, KIF23,  LPIN2​
Diamond-Blackfan Anaemia​
RPL11, RPL26, RPL35A, RPL5, RPL27, RPL9, RPS10, RPS17, RPS19, RPS24, RPS7, RPS26, RPS29, RPS27, GATA1​
Schwachman-Diamond Syndrome​
SBDS
Sideroblastic Anaemia​
ALAS2, SLC25A38, ABCB7, SLC11A2​
Red cell membranopathies
SPTA1, SPTB, ANK1, SLC4A1, EPB42, EPB41​
Stomatocytosis
PIEZO1, SLC2A1, RHAG​
Red blood cell enzyme deficiencies
G6PD, PKLR, NT5C3A, GPI, HK1, TPI1, PFKM, PGK1, GPX1, ALDOA, GSR, ENO1, GSS, GCLC​
Bone marrow failure
GATA2
Iron resistant iron deficient anaemia
TMPRSS6

For specimen requirements, please see the Oxford Red Cell Panel referral Form.

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Last updated 23 Feb 2017.