DNA matching
Immigration relationship test
Relationship testing
Colorectal polyposis (germline)
Familial cancer panel (germline)
Lynch syndrome (germline)
APOE screen
Familial hypercholesterolaemia panel
Coeliac disease HLA typing
MTHFR screen
Prothrombin gene
Haemochromatosis type 1
UGT1A1 screen
Hypercholesterolaemia panel
Hereditary angioedema
Fragile X syndrome
PMP22 deletion/duplication testing
Hereditary recurrent fevers screen
Hereditary angioedema
HLA panel screen (DR and DQ)
HLA-B27
HLA-B51
HLA-B1502
HLA-B5701
HLA-B5801
Recurrent fevers screen
Sex mismatch FISH
Acute myeloid leukaemia FISH panel
Eosinophilia FISH panel (myeloid/lymphoid neoplasms)
Karyotype (leukaemia/lymphoma)
Myelodysplastic syndrome FISH
BCR/ABL1 FISH
BCR/ABL1 PCR
CBFB/MYH11 FISH
DEK/NUP FISH
MLLT3/KMT2A FISH
PML/RARA FISH
RUNX1/RUNX1T1 FISH
Trisomy 8 FISH
5q deletion FISH
7q deletion FISH
20q deletion FISH
RPN1/MECOM FISH
CALR screen
FGFR1 FISH
JAK2 screen
MPL screen
PDGFRA/FIP1L1 FISH
PDGFRB FISH
Chronic lymphocytic leukaemia FISH panel
Chronic lymphocytic leukaemia microarray
IGH/FGFR3 FISH
IGH/MAF FISH
Lymphoma panel
Multiple hit lymphoma FISH
Myeloid/lymphoid neoplasms with eosinophilia FISH panel
Myeloma panel FISH
Plasma cell myeloma microarray
TCR/IGH rearrangements
ATM deletion FISH
CDKN2A FISH
ETV6/RUNX1 FISH
KMT2A FISH
TP53 FISH
Trisomy 12 FISH
6q21 deletion FISH
13q deletion FISH
ALK FISH (lymphoma)
Anaplastic large cell lymphoma FISH
BCL6 FISH
Burkitt lymphoma FISH
CCND2 FISH
Hepatosplenic T-cell lymphoma FISH
IGH-BCL2 FISH
IGH/MALT1 FISH
IGK, IGL FISH
IRF4/DUSP22 FISH
Mantle cell lymphoma FISH
MYC FISH
EGFR FISH
Glioma FISH panel
Glioma focused gene panel
MGMT methylation analysis
Breast cancer gene expression prognostic assay
Breast cancer focused gene panel
Secretory carcinoma of the breast FISH
BRAF V600 screen
Colorectal cancer focused gene panel
KRAS and NRAS screen
Gastrointestinal stromal tumour focused gene panel
Endometrial cancer focused gene panel
Ovarian somatic BRCA
Mammary secretory analogue carcinoma FISH
ALK screen (lung cancer)
EGFR screen
Lung cancer focused gene panel
ROS1 FISH
Melanoma focused gene panel
MYCN FISH
Prostate somatic BRCA
MiT family translocation RCC FISH
Alveolar rhabdomyosarcoma FISH
Alveolar soft-part sarcoma FISH
Aneurysmal bone cyst FISH
Dermatofibrosarcoma protuberans (DFSP)
Desmoplastic small round cell tumour FISH
Ewing sarcoma FISH
Ewing-like sarcoma FISH
EWSR1/FLI1 FISH
FUS/DDIT3 FISH
Liposarcoma FISH
Myxoid liposarcoma FISH
Nodular fasciitis FISH
Salivary gland clear cell carcinoma FISH
Synovial sarcoma FISH
Foundation Medicine
Guardant Health
Karyotype (tumour)
NTRK1, NTRK2, NTRK3 FISH
Signatera
ThyroSeq
1p36 microdeletion syndrome
22q11.2 FISH
Angelman syndrome FISH
Cri du Chat syndrome
Fragile X syndrome
Karyotype (blood)
Microarray (constitutional)
Microarray (parental)
Miller-Dieker syndrome FISH
Phelan-McDermid syndrome FISH
Prader-Willi syndrome FISH
SHOX
Smith-Magenis syndrome (SMS)
Sotos syndrome
Spinal muscular atrophy
SRY FISH
Williams syndrome
Wolf-Hirschhorn syndrome
Y chromosome FISH
KAL1, FGFR1
Lactose intolerance
CFTR mutation panel (cystic fibrosis and CBAVD)
HLA-B1502
HLA-B5701
HLA-B5801
Pharmacogenomic (PGx) screen
DPYD screen
TPMT screen
UGT1A1 screen
Alpha thalassaemia screen
Fragile X syndrome
Reproductive carrier screen (CF, SMA and fragile X)
Reproductive carrier screen (expanded)
Spinal muscular atrophy
Karyotype (amniocentesis)
Karyotype (CVS)
Microarray (amniocentesis or CVS)
Prenatal single gene testing
Rapid neonatal FISH
Rapid prenatal FISH
CFTR mutation panel
Factor V Leiden
Karyotype (reproductive)
Microarray (products of conception)
MTHFR screen
Ploidy FISH studies
POC FISH studies
Prothrombin gene
Y chromosome FISH
Y microdeletion (DAZ gene)
Non-invasive prenatal test (NIPT)