Test List for Oncology Genomics Services

Download the Bristol Genetics Laboratory request form PDF

(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: PDF iconQuantitative and Qualitative BCR-ABL1 and ABL1 kinase domain mutation screening in ALL.pdf
FISH:
BCR-ABL1
MLL
PDGFRB
Acute lymphoblastic leukaemia/lymphoma (childhood)  Karyotype
BCR-ABL1 qualitative
BCR-ABL1 quantitation (RQ-PCR)
AKD sequencing
Download: PDF iconQuantitative and Qualitative BCR-ABL1 and ABL1 kinase domain mutation screening in ALL.pdf
MRD monitoring (Immunoglobulin and T-cell receptor markers)
Download: PDF iconMinimal Residual Disease (MRD) analysis in Childhood Acute Lymphoblastic Leukaemia (ALL).pdf
FISH:
BCR-ABL1
ETV6/RUNX1
MLL
E2A (TCF3)
E2A/PBX1/HLF
PDGFRB
Acute myeloid leukaemia  Karyotype
FLT3
NPM1
Download: PDF iconFLT-3 and NPM1 testing in AML.pdf
KIT p.(Asp816Val)
KIT exon 8 sequencing
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: PDF iconImmunoglobulin and T-cell receptor clonality testing in lymphoma.pdf
FISH:
ALK
IRF4/DUSP22
Angiomatoid fibrous histiocytoma  FISH:
EWSR1
Aplastic anaemia Chromosome breakage studies
Download: PDF iconChromosome Breakage Disorders Cytogenetics.pdf
Chromosome breakage NGS panel
Download: PDF iconChromosome Breakage Disorders Gene Panel.pdf
Inherited bone marrow failure syndrome NGS panel
Download: PDF iconInherited Bone Marrow Failure Syndromes Gene Panel.pdf
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: PDF iconAnalysis of Mutational Status of Clonal IGVH Gene Rearrangements in Chronic Lymphocytic Leukaemia.pdf
FISH:
ATM
TP53
12 centromere
13q
Chronic myeloid leukaemia  Karyotype
BCR-ABL1 qualitative
BCR-ABL1 quantitation (RQ-PCR)
AKD sequencing
Download: PDF iconQuantitative and Qualitative BCR-ABL1 analysis and ABL1 kinase domain mutation screening in CML.pdf
FISH:
BCR-ABL1
Clear cell sarcoma FISH:
EWSR1
Colorectal cancer Microsatellite instability
BRAF p.Val600Glu
Download: PDF iconColorectal Cancer – Lynch Syndrome Pre-screening.pdf
KRAS
NRAS
Download: PDF iconMolecular Pathology Request Form Bristol Genetics Laboratory.pdf
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: PDF iconImmunoglobulin and T-cell receptor clonality testing in lymphoma.pdf
FISH:
MALT
Extraskeletal Ewing sarcoma  FISH:
EWSR1
Extraskeletal myxoid chondrosarcoma  FISH:
EWSR1
Fanconi anaemia  Chromosome breakage studies
Download: PDF iconChromosome Breakage Disorders Cytogenetics.pdf
Chromosome breakage NGS panel
Download: PDF iconChromosome Breakage Disorders Gene Panel.pdf
FISH:
D7S522/CEP7
Follicular lymphoma  Clonality  screening
Download: PDF iconImmunoglobulin and T-cell receptor clonality testing in lymphoma.pdf
FISH:
BCL2
Gastrointestinal stromal tumours  KIT sequencing
PDGFRA sequencing
Giant cell fibroblastoma  FISH:
COL1A1/PDGFRB
Glioma
Download: PDF iconGlioma Service.pdf
BRAF
Download: PDF iconRequest for BRAF analysis in Brain tumours.pdf
EGFRvIII
IDH1 sequencing
IDH2 sequencing
MGMT promoter methylation
FISH:
1p19q
Download:PDF iconRequest for Molecular Analysis in Glioma.pdf
Hairy cell leukaemia BRAF p.Val600Glu
Clonality screening
Download: PDF iconImmunoglobulin and T-cell receptor clonality testing in lymphoma.pdf
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:PDF iconInherited Bone Marrow Failure Syndromes Gene Panel.pdf
Langerhans cell histocytosis BRAF p.Val600Glu
Low grade fibromyxoid sarcoma FISH:
FUS
Mammary analogue secretory carcinoma FISH:
ETV6 breakapart
Mantle cell lymphoma  FISH:
IgH/CCND1
Medulloblastoma FISH:
CMYC
MYCN/LAF
Melanoma
Download: PDF iconGenetic Testing in Melanoma.pdf
BRAF p.Val600Glu
Download: PDF iconMolecular Pathology Request Form Bristol Genetics Laboratory.pdf
KIT sequencing
Myelodysplastic syndrome Karyotype
Inherited bone marrow failure syndrome NGS panel
Download: PDF iconInherited Bone Marrow Failure Syndromes Gene Panel.pdf
FISH:
20q12/20q11
MECOM
5q31
D7S522/CEP7

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

Download: PDF iconGATA1 Diagnostic Service for Myeloid Proliferations Related to Down Syndrome.pdf

GATA1 sequencing 
Myeloma FISH:
TP53
IgH/FGFR3
IgH/MAF
CKS1B/CDKN2C (1q21)
IgH/MAFB
Myeloproliferative neoplasms
(polycythaemia vera, essential thrombocythaemia  and primary myelofibrosis)
JAK2 p.(Val617Phe)
JAK2 exon 12
Download: PDF iconJAK2 p.(Val617Phe) and JAK2 exon 12 Mutation Analysis.pdf
CALR exon 9
Download: PDF iconCALR exon 9 mutation analysis in MPN.pdf
MPL exon 10
Download: PDF iconMPL exon 10 mutation analysis in MPN.pdf
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: PDF iconInherited Bone Marrow Failure Syndromes Gene Panel.pdf
Non-small cell lung cancer EGFR
FISH:
ALK
Download: PDF iconEGFR and ALK testing in NSCLC.pdf
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)
Thrombocytopaenia (inherited)
Download: PDF iconCongenital Amegakaryocytic Thrombocytopenia (CAMT).pdf
Inherited bone marrow failure syndrome NGS panel
Download: PDF iconInherited Bone Marrow Failure Syndromes Gene Panel.pdf

 

Last Updated: 16th October 2018