Inherited disorders
9 tests- HBA1 / HBA2Sanger + MLPAAlpha thalassemia
- HBBSanger sequencingBeta thalassemia, sickle cell disease
- SMN1 / SMN2MLPASpinal muscular atrophy (SMA)
- CFTRTargeted panelCystic fibrosis
- DMDMLPADuchenne / Becker muscular dystrophy
- MEFVVariant panelFamilial Mediterranean fever (FMF)
- CYP21A2Sanger sequencingCongenital adrenal hyperplasia
- FGFR3Sanger sequencingAchondroplasia
- HFETargeted genotypingHereditary haemochromatosis