Test List for Oncology Genomics Services

 

(Guide for how to fill in the request form)

For detailed information on the FISH service provided at Bristol Genetics Laboratory download: 

Disease Test Name

Acute lymphoblastic leukaemia/lymphoma (adulthood) 

Karyotype
BCR-ABL1 qualitative
BCR-ABL1 quantitation (RQ-PCR)
AKD sequencing
Download: 
FISH:
BCR-ABL1
MLL
PDGFRB
Acute lymphoblastic leukaemia/lymphoma (childhood)  Karyotype
BCR-ABL1 qualitative
BCR-ABL1 quantitation (RQ-PCR)
AKD sequencing
Download: 
MRD monitoring (Immunoglobulin and T-cell receptor markers)
Download: 
FISH:
BCR-ABL1
ETV6/RUNX1
MLL
E2A (TCF3)
E2A/PBX1/HLF
PDGFRB
Acute myeloid leukaemia  Karyotype
FLT3- ITD analysis
NPM1 analysis
Download: 
KIT p.(Asp816Val) analysis
KIT exon 8 sequencing
AML/MDS NGS gene panel
FISH:
MLL
CBFB
RUNX1/RUNX1T1
D7S522/CEP7
5q31
MECOM
Acute promyelocytic leukaemia  Karyotype
FISH:
PML/RARA
Alveolar rhabdomyosarcoma  FISH:
FOXO1 (FKHR)
Anaplastic lymphoma  Clonality screening
Download: 
FISH:
ALK
IRF4/DUSP22
Angiomatoid fibrous histiocytoma  FISH:
EWSR1
Aplastic anaemia Chromosome breakage studies
Download: 
Chromosome breakage NGS panel
Download: 
Inherited bone marrow failure syndrome NGS panel
Download: 
FISH:
D7S522/CEP7
Atypical lipomatous tumour/well-differentiated liposarcoma  FISH:
MDM2
Breast and ovarian cancer (hereditary) BRCA1 sequencing and dosage analysis
BRCA2 sequencing and dosage analysis
Chondrosarcoma  IDH1 sequencing
IDH2 sequencing
Chronic lymphocytic leukaemia  IGVH mutation status
Download: 
FISH:
ATM
TP53
12 centromere
13q
Chronic myeloid leukaemia  Karyotype
BCR-ABL1 qualitative
BCR-ABL1 quantitation (RQ-PCR)
AKD sequencing
Download: 
Extended MPN NGS gene panel
FISH:
BCR-ABL1
Clear cell sarcoma FISH:
EWSR1
Colorectal cancer

BRAF p.(Val600Glu) analysis
Microsatellite instability (MSI)
MLH1 promoter hypermethylation analysis
Download: 

Colorectal NGS gene panel: BRAF, KRAS and NRAS
Download: 

Dedifferentiated liposarcoma FISH:
MDM2
Dermatofibrosarcoma protuberans  FISH:
COL1A1/PDGFRB
Desmoplastic small round cell tumour  FISH:
EWSR1
Ewing sarcoma  FISH:
EWSR1
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Clonality screening
Download: 
FISH:
MALT
Extraskeletal Ewing sarcoma  FISH:
EWSR1
Extraskeletal myxoid chondrosarcoma  FISH:
EWSR1
Fanconi anaemia  Chromosome breakage studies
Download: 
Chromosome breakage NGS panel
Download: 
FISH:
D7S522/CEP7
Follicular lymphoma  Clonality  screening
Download: 
FISH:
BCL2
Gastrointestinal stromal tumours  GIST NGS gene panel: BRAF, KIT, KRAS, NRAS and PDGFRA
Download: 
Giant cell fibroblastoma  FISH:
COL1A1/PDGFRB
Glioma
Download: 
MGMT promoter methylation
IDH1 codon 132 sequence analysis
IDH2 codon 172 sequence analysis 
H3F3A codon 28 and 35 sequence analysis
HIST1H3B codon 28 sequence analysis
BRAF p.(Val600Glu) analysis
BRAF fusion RT-PCR
FISH:
1p and 19q co-deletion analysis
BRAF
EGFR amplification
MYC
MYCN
Download:
Hairy cell leukaemia BRAF p.Val600Glu analysis
Clonality screening
Download: 
High grade B cell lymphomas FISH:
MYC
BCL2
BCL6
IGH/MYC
Hyalinising spindle cell tumour with giant rosettes FISH:
FUS
Hypereosinophilic syndrome Karyotype
FISH:
FIP1L1-CHIC2-PDGFRA
PDGFRB
FGFR3
Infantile fibrosarcoma 

FISH:
ETV6

Inherited bone marrow syndromes Inherited bone marrow failure syndrome NGS panel
Download:
Juvenile myelomonocytic leukaemia JMML NGS gene panel
Langerhans cell histocytosis BRAF p.(Val600Glu) analysis
Low grade fibromyxoid sarcoma FISH:
FUS
Mammary analogue secretory carcinoma FISH:
ETV6
Mantle cell lymphoma  FISH:
IgH/CCND1
Medulloblastoma FISH:
MYC
MYCN
Melanoma
Download: 
BRAF p.(Val600Glu) analysis
Melanoma NGS gene panel: BRAF, GNA11, GNAQ, KIT and NRAS
Download: 
KIT sequencing
Myelodysplastic syndrome Karyotype
Inherited bone marrow failure syndrome NGS panel
Download: 
FISH:
20q12/20q11
MECOM
5q31
D7S522/CEP7

Myeloid proliferations related to Down syndrome (transient abnormal myelopoiesis and myeloid leukaemia) 

Download: 

GATA1 sequencing 
Myeloma FISH:
TP53
IGH/FGFR3
IGH/MAF
CKS1B/CDKN2C (1q21)
IGH/MAFB

Myeloproliferative neoplasms (polycythaemia vera, essential thrombocythaemia and primary myelofibrosis)

Download 

JAK2 p.(Val617Phe) analysis
JAK2 exon 12 analysis
CALR exon 9 analysis
MPL exon 10 analysis
MPN NGS gene panel
Extended MPN NGS gene panel
Myoepithelioma/myoepithelial carcinoma/mixed tumour FISH:
EWSR1
Myxoid liposarcoma FISH:
DDIT3
EWSR1
FUS
Neuroblastoma FISH:
MYCN
Neutropaenia (inherited) Inherited bone marrow failure syndrome NGS panel
Download: 
Non-small cell lung cancer

Lung cancer NGS gene panel: EGFR, BRAF, PIK3CA, KRAS and ERBB2
FISH:
ALK
Download: 

Download: 

Round cell tumour FISH:
EWSR1
Sclerosing epithelioid fibrosarcoma FISH:
FUS
Sex mis-match post-transplant FISH:
X/Y
Synovial sarcoma FISH:
SS18 (SYT)
Synovial sarcoma (paediatric) FISH:
MYCN
Systemic mastocytosis KIT p.(Asp816Val) analysis
Thrombocytopaenia (inherited)
Download: 
Inherited bone marrow failure syndrome NGS panel
Download:

 

Last Updated: 19th September 2019