Test catalogue
39 molecular genetic tests across five clinical areas.
Each assay targets a defined gene region with an established method. Contract pricing and turnaround times are provided on request for laboratories and clinics.
39 tests
- HBA1 / HBA2Alpha thalassemia→
- HBBBeta thalassemia, sickle cell disease→
- SMN1 / SMN2Spinal muscular atrophy (SMA)→
- CFTRCystic fibrosis→
- DMDDuchenne / Becker muscular dystrophy→
- MEFVFamilial Mediterranean fever (FMF)→
- CYP21A2Congenital adrenal hyperplasia→
- FGFR3Achondroplasia→
- HFEHereditary haemochromatosis→
- FMR1 CGGFragile X syndrome→
- HTT CAGHuntington disease→
- DMPK CTGMyotonic dystrophy type 1→
- FXN GAAFriedreich ataxia→
- Y-AZFMale infertility (Y microdeletions)→
- QF-PCR 13/18/21/X/YRapid aneuploidy screening→
- HLA-B27Ankylosing spondylitis→
- HLA-B51Behçet disease→
- HLA-DQ2 / DQ8Coeliac disease→
- F5 LeidenInherited thrombophilia→
- F2 G20210AInherited thrombophilia (prothrombin)→
- DPYDFluoropyrimidine toxicity→
- JAK2 V617FMyeloproliferative neoplasms→
- JAK2 exon 12Polycythaemia vera→
- CALR exon 9Essential thrombocythaemia, myelofibrosis→
- MPL W515Essential thrombocythaemia, myelofibrosis→
- BCR::ABL1Chronic myeloid leukaemia, ALL→
- FLT3-ITD / TKDAcute myeloid leukaemia→
- NPM1Acute myeloid leukaemia→
- IDH1 / IDH2AML, glioma→
- KIT D816VSystemic mastocytosis→
- Leukaemia fusion panelAcute leukaemia classification→
- EGFR exons 18–21Non-small cell lung cancer→
- KRAS / NRASColorectal cancer→
- BRAF codon 600Melanoma, colorectal and thyroid cancer→
- MSIMicrosatellite instability→
- MLH1 promoterLynch syndrome work-up→
- MGMT promoterGlioblastoma→
- NTRK fusionsSolid tumours, targeted therapy→
- BRCA1 / BRCA2Hereditary breast and ovarian cancer→