Red Cell Gene Panel

Description: 
The Red Cell Gene Panel (RCGP) is a targeted next generation sequencing based assay to test for pathogenic mutations in genes known to be involved in red blood cell disorders. The RCGP is divided up into sub-panels of genes, which address specific pathologies of the red cell; haemoglobinopathy, enzymopathy, membranopathy, congenital dyserythropoietic anaemia (CDA), congenital erythrocytosis, sideroblastic anaemia, megaloblastic anaemia, Diamond-Blackfan anaemia (DBA), Porphria, disorders of iron metabolism, bone marrow failure and haemolytic uremic syndrome. The sub-panels may be analysed separately or in combination depending on the phenotype of the patient. Single gene analysis is also available where the patient has a specific phenotype at presentation. The genes included in each sub-panel is listed in the document attached below.
Clinical details: 
Factors affecting results or interpretation: Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis. Samples must be clearly labelled with the patients first name, surname, D.O.B, hospital number and the date the sample was taken. The details on the sample must correspond to the request form. Unlabelled samples will not be accepted.
Reference range: 

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.

Synonyms or keywords: 
ALDOA, ABCB6, ABCB7, ACD, ACKR1, ADD1, ADD2, AHSP, AK1, ALAD, ALAS1, ALAS2, ALAS2, Alpha globin HS40, AMN, ANK1, ANKRD26, APOB, ATRX, Beta globin LCR HS1-5, BHLHE41, BMP4, BMP6, Bone Marrow Failure, BPGM, CCBE1, CDAN1, CECR1, CI5ORF41, Congenital Dyserythropeoietic Anaemia, Congenital Erythrocytosis, COX4I2, CP, CPOX, CTC1, CUBN, CXCR4, CYB5A, CYB5R1, CYB5R2, CYB5R3, CYB5R4, CYB5RL, DHFR, Diamond-Blackfan Anaemia, DKC1, DMTN, EGLN1, EGLN2, EGLN3, ELA2, ELANE, ENO1, EPAS1, EPB41, EPB42, EPO, EPOR, FAT4, FECH, FTCD, FTH1, FTL, G6PC3, G6PD, GAPDH, GATA1, GATA2, GCLC, GFI1, GFI1B, GIF, GLRX5, GP1BA, GPI, GPX1, GSR, GSS, Haemoglobinopathies, HAMP, HAX1, HBA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBM, HBQ1, HBZ, Hemophagocytic Lymphohistiocytosis, HFE, HFE2, HIF1A, HIF1AN, HIF3A, HK1, HK2, HLH, HMBS, HOXA11, HP, HPLH1, Iron Regulation, JAK2, KCNN4, KDM6A, KIF23, KLF1, LIG4, LPIN2, Lymphedema, MASTL, Megaloblastic Anaemia, Membranopathy, MPL, MT-CO1, MTR, MTRR, MTTP, MYH9, NBEAL2, Neutropenia, Next Generation Sequencing, NHP2, NOP10, NT5C3A, OS9, PALB2, PARN, PFKM, PGAM1, PGD, PGK1, PGM1, PIEZO1, PKLR, Porphyria, PPOX, PRF1, PUS1, RAD51C, RBM8A, Red Cell Enzyme, RhAG, RMRP, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPL9, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RTEL1, RUNX1, SBDS, SDS, SEC23B, SERPINA1, Sex Chromosome Markers, SF3B1, SH2B3, Sideroblastic Anaemia, Sitosterolemia, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC37A4, SLC40A1, SLC4A1, SMAD4, SMAD6, SMAD7, SMARCAL1, SPTA1, SPTB, SRP72, STOM, STX11, STXBP2, TAL1, TAZ, TERC, TERT, TF, TFR2, TFRC, Thrombocytopenia, TINF2, TMOD1, TMPRSS6, TPI1, TPM3, TUBB1, UGT1A1, UMPS, UNC13D, UROD, UROS, USB1, VHL, WAS, WRAP53, XK, XRCC2, YARS2, ZNF197
Sample type and Volume required: 
Volume of blood anticoagulated with EDTA: Adult and children 4 ml, Infants (0-2 years) 1 ml
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
Turnaround time: 
40-60 working days. Please note any clinical urgency on the referral form, so samples can be prioritised.
Special sample instructions: 

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.

Storage and transport: 
Blood should be stored at 4°C where possible. Send at room temperature by first class post. If possible, please complete the request form attached and send as a hard copy (do not send electronically) with the sample. This will ensure all relevant information is available and will aid us in processing your test.
Contacts:
Red Cell Centre - Molecular Diagnostics Laboratory
020 3299 1246 / 2265
kch-tr.pnd@nhs.net
c/o Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri, 9.00am-5.30pm
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 15/01/2020