Table 1.
Phenotype | Genes included in the panel |
---|---|
Membrane defects | SPTA1, SPTB, ANK1, EPB42, SLC4A1, EPB41, ADD2, GYPC/D, EPB72, PIEZO1, KCNN4, RHAG, ATP11C |
Enzyme defects | G6PD, PKLR, GPI, HK1, PFKM/, PFKL, TPI1, PGK1, GSR, GSS, GCLC, UMPH1, AK1, ALDOA |
Congenital dyserythropoietic anemia | PARP4, SEC23B, KLF1, CDAN1A, C15ORF41, KIF23, GATA1, ALAS2 |