BGL Services

Download the Bristol Genetics Laboratory request form PDF

(Guide for how to fill in the request form)

A-Z of Genetics Services
Bristol Genetics Laboratory services Sample Gene OMIM

Acute Lymphoblastic Leukaemia Diagnosis download  And

minimal residual disease download PDF iconMinimal Residual Disease (MRD) analysis in Childhood Acute Lymphoblastic Leukaemia (ALL).pdf

Bone Marrow in ACD

IKZF1

E2A (TCF3)

603023
Axenfeld-Rieger Syndrome download PDF iconAxenfeld-Rieger Syndrome – PITX2 or FOXC1.pdf (Disease MIM 180500, 602482)
Blood 3-5ml in EDTA PITX2 601542
Blood 3-5ml in EDTA FOXC1 601090
Blood 3-5ml in EDTA TAZ/G4.5 300394
BCR-ABL in CML download PDF iconQuantitative and Qualitative BCR-ABL1 analysis and ABL1 kinase domain mutation screening in CML.pdf
BCR-ABL in ALL download PDF iconQuantitative and Qualitative BCR-ABL1 and ABL1 kinase domain mutation screening in ALL.pdf
Blood 3-5ml in EDTA BCR-ABL 151410
Breast Cancer - BRC predictive testing Blood 3-5ml in EDTA

BRCA1

BRCA21

113705

600185

Butyrylcholinesterase deficiency (Cholinesterase Unit, Clinical Biochemistry Dept)     177400

Cantu Syndrome (Hypertrichotic Osteochondrodysplasia) download PDF iconCantú Syndrome.pdf

Blood 3-5ml in EDTA ABCC9 601439
Cardiomyopathy download PDF iconPaediatric Cardiomyopathy.pdf Blood 3-5ml in EDTA See information sheet  
Charcot-Marie-Tooth download PDF iconInherited Peripheral Neuropathies.pdf      
Chromosome analysis (child/adult) – postnatal, with/without FISH* (blood, solid tissue) download PDF iconPostnatal Cytogenetic Analysis.pdf Blood 2-5mls Li Hep; solid tissue-    
Tissue culture media available from Lab
Chromosome analysis (prenatal diagnosis) with/without FISH*(amniotic fluid, CVS, fetal blood) download PDF iconPrenatal Genetic Testing.pdf Blood 1-2 mls Li Hep;    
CVS transport media available from lab; amniotic fluid 10-20 mls in sterile universal
Chromosome analysis (leukaemia, lymphoma) with/without FISH*(blood, bone marrow, tumour) download  Blood 2-10 mls Li Hep;Bone marrow - heparinised bone marrow culture media available from lab; tumour tissue culture media available from lab    
Chromosome instability syndrome testing (for Fanconi Anaemia, Ataxia Telangiectasia, Nijmegen Breakage Syndrome, Blooms Syndrome, Roberts Syndrome and SC Phocomelia, Premature Chromosome Condensation, ICF Syndrome) download PDF iconChromosome Breakage Disorders Cytogenetics.pdf
Blood 10 mls Li Hep;    
Other sample types please contact lab
Chronic Lymphocytic Leaukaemia (CLL) - mutational status of clonal IGVH gene rearrangements download PDF iconAnalysis of Mutational Status of Clonal IGVH Gene Rearrangements in Chronic Lymphocytic Leukaemia.pdf      
Cockayne Syndrome (CS) download PDF iconCockayne Syndrome (CS).pdf Blood 3-5ml in EDTA ERCC6
ERCC8
609413
609412
Colorectal Cancer
   Microsatellite Instability and BRAF download PDF iconColorectal Cancer – Lynch Syndrome Pre-screening.pdf
   Acquired KRAS mutation testing download PDF iconMolecular Pathology Request Form.pdf
Paraffin embedded tumour tissue MSI and BRAF

KRAS
164757

190070
Congenital Amegakaryocytic Thrombocytopenia (CAMT) download PDF iconCongenital Amegakaryocytic Thrombocytopenia (CAMT).pdf (Disease MIM 604498) Blood 3-5ml in EDTA MPL 159530
Congenital Central Hypoventilation Syndrome (CCHS) download PDF iconCongenital or late-onset Central Hypoventilation Syndrome .pdf (Disease MIM 209880) Blood 3-5ml in EDTA PHOX2B 603851
Cystic Fibrosis download PDF iconCystic Fibrosis (CF).pdf (Disease MIM 219700)
Blood 3-5ml in EDTA CFTR 602421

Cystinuria download PDF iconCystinuria UKGTN service (OMIM #220100).pdf

Sequencing and MLPA

Blood 3-5ml in EDTA/DNA

SLC3A1

SLC7A9

104614

604144

DCML/MonoMAC syndrome/Emberger syndrome/susceptibility to AML/MDS Blood 3-5ml in EDTA/DNA GATA2  
Dermatofibrosarcoma protuberans
COL1A/PDGFB rearrangement by FISH download 
Paraffin embedded tissue CoL1A/PDGFB  
Distal Arthrogryposis download PDF iconDistal Arthrogryposis Service.pdf Blood 3-5ml in EDTA/DNA TPM2 605204
Dysmorphism and/or developmental delay - microarray analysis download PDF iconMICROARRAY COMPARATIVE GENOMIC HYBRIDISATION (CGH).pdf Blood 3-5ml in EDTA    
Epidermal Growth Factor Receptor (EGFR)  download PDF iconEGFR and ALK testing in NSCLC.pdf  EGFR Referral Form download PDF iconMolecular Pathology Request Form.pdf Paraffin embedded tumour tissue EGFR 131550
Ellis Van Creveld download PDF iconEllis-van Creveld Syndrome.pdf (Disease MIM 225500) Blood 3-5ml in EDTA EVC 604831
EVC2

607261

Fabry Disease download PDF iconFabry Disease Service.pdf (Disease MIM 301500) Blood 3-5ml in EDTA GLA 300644
Blood 3-5ml in EDTA F5 612309
F2 176930
Familial Hypercholesterolaemia  download PDF iconFamilial Hypercholesterolaemia (FH).pdf (Disease MIM 143890)
(Autosomal Dominant Hypercholesterolaemia, Familial Defective APOB and PCSK9-related ADH)
Blood 3-5ml in EDTA LDLR 606945
APOB 107730
PCSK9 607786

Facioscapulohumeral Dystrophy (FSHD) 1 download PDF iconFacioscapulohumeral Muscular Dystrophy – FSHD 1 and 2.pdfFSHD Clinical Proforma download PDF iconFSHD proforma for further DNA testing.pdf

Blood 5-8ml in EDTA P13-e11 analysis  158900
4qA/B haplotype analysis 
Facioscapulohumeral Dystrophy (FSHD) 2 download PDF iconFacioscapulohumeral Muscular Dystrophy – FSHD 1 and 2.pdf& FSHD Clinical Proforma download PDF iconFSHD proforma for further DNA testing.pdf
4q35 methylation analysis  158901
SMCHD1 sequencing
FLT3-NPM1 in AML download PDF iconFLT-3 and NPM1 testing in AML.pdf
Blood 3-5ml in EDTA FLT3-NPM1 136351
Fragile X Syndrome download PDF iconFragile X Syndrome (FMR1).pdf
Blood 3-5ml in EDTA FMR1 309550
Galactosaemia download PDF iconGalactosaemia.pdf
Blood 3-5ml in EDTA GALT 230400
GIST (Gastrointestinal stromal tumour) download PDF iconGenetic Testing in GIST KIT and PDGFRA.pdf      
Gliomas: 1p36/19q13 FISH, Methylation of MGMT, IDH1/IDH2 sequencing,BRAF mutation analysis and KIAA1549-BRAF fusion analysis download PDF iconGlioma Service.pdf
MGMT , 1p19q and BRAF Brain Tumour test request form download PDF iconRequest for Molecular Analysis in Glioma.pdf
Blood 3-5ml in EDTA 1p36/19q13
MGMT
IDH1/IDH2

156569
Blood 3-5ml in EDTA HFE 235200
Hairy Cell Leukaemia

Blood 3-5ml in EDTA 

          or

Bone Marrow

BRAF 164757
Huntington Disease download PDF iconHuntington Disease – HTT gene.pdf (Disease MIM 143100)
Blood 3-5ml in EDTA IT15 613004

Hypereosinophilic syndrome

PDGFRB rearrangement by FISH download PDF iconOncology FISH Service.pdf
Paraffin embedded tissue PDGFRB  
Immunoglobulin and T-cell receptor clonality testing in lymphoma download PDF iconImmunoglobulin and T-cell receptor clonality testing in lymphoma.pdf Blood 3-5ml in EDTA    
Inherited Peripheral Neuropathies download PDF iconInherited Peripheral Neuropathies.pdf      
        CMT Dominant Demyelinating CMT1A (Disease MIM 118200) Blood 3-5ml in EDTA PMP22 601097
CMT Dominant Demyelinating CMT1B (Disease MIM 118220) Blood 3-5ml in EDTA MPZ 159440
CMT Dominant Demyelinating CMT1C (Testing Criteria) (Disease MIM 601098) Blood 3-5ml in EDTA LITAF 603795
CMT Dominant Demyelinating CMT1D (Testing Criteria) (Disease MIM 607678) Blood 3-5ml in EDTA EGR2 129010
CMT Dominant Demyelinating CMT1F (Testing Criteria) (Disease MIM 607734) Blood 3-5ml in EDTA NEFL 162280
CMT Dominant Axonal CMT2A (Disease MIM 609260) Blood 3-5ml in EDTA MFN2 608507
CMT Dominant Axonal CMT2E (Testing Criteria) (Disease MIM 607684) Blood 3-5ml in EDTA NEFL 162280
CMT Dominant Axonal CMT2I (Disease MIM 607677) Blood 3-5ml in EDTA MPZ 159440
CMT Recessive Demyelinating CMT4E (Testing Criteria)/Congenital Hypomyelinating Neuropathy (Disease MIM 605253) Blood 3-5ml in EDTA EGR2 129010
CMT Recessive Demyelinating CMT4F (Testing Criteria)/Hypertrophic Neuropathy of Dejerine-Sottas (Disease MIM 145900) Blood 3-5ml in EDTA PRX 605725
CMT X-Linked (Disease MIM 302800)
Blood 3-5ml in EDTA GJB1 (CX32) 304040
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) (Disease MIM 162500)
Blood 3-5ml in EDTA PMP22 601097
Hereditary Sensory and Autonomic Neuropathy HSAN1 (Disease MIM 162400) Blood 3-5ml in EDTA SPTLC1 605712
Hereditary Sensory and Autonomic Neuropathy HSAN1 (Disease MIM 162400)/CMT2B (Disease MIM 600882) (Testing Criteria) Blood 3-5ml in EDTA RAB7A (RAB7) 602298
Distal Hereditary Motor Neuropathy Type 2B (Testing Criteria)/CMT CMT2F (Disease MIM 608634)
Blood 3-5ml in EDTA HSPB1 602195
Distal Hereditary Motor Neuropathy Type 2A (Testing Criteria)/CMT Axonal CMT2L (Disease MIM 158590)
Blood 3-5ml in EDTA HSPB8 608014
Distal Hereditary Motor Neuropathy Type V (Testing Criteria) (Disease MIM 600794)
Blood 3-5ml in EDTA BSCL2 606158
JAK2 in myeloproliferative neoplasms download PDF iconJAK2 p.(Val617Phe) and JAK2 exon 12 Mutation Analysis.pdf Blood 3-5ml in EDTA JAK2
V617F & Exon 12 
147796
KBG syndrome download PDF iconKBG Syndrome.pdf Blood 3-5ml in EDTA ANKRD11 148050
Learning difficulties +/- dysmorphism - microarray analysis download PDF iconMicroarray Comparative Genomic Hybridisation (CGH).pdf Blood 3-5ml in EDTA    
Liposarcoma CHOP rearrangement by FISH download PDF iconSarcoma FISH.pdf Paraffin embedded tissue CHOP  
Lymphoma - Immunoglobulin and T-cell receptor clonality testing download PDF iconImmunoglobulin and T-cell receptor clonality testing in lymphoma.pdf      
Medium Chain Acyl CoA Dehydrognase Deficiency (MCAD) download PDF iconMedium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD).pdf Blood 3-5ml in EDTA ACADM 607008
Melanoma - BRAF analysis download PDF iconGenetic Testing in Melanoma.pdf Request Form download PDF iconMolecular Pathology Request Form.pdf Paraffin embedded tumour tissue BRAF 164757
Microarray analysis (developmental delay/learning difficulty +/- dysmorphism) download PDF iconMicroarray Comparative Genomic Hybridisation (CGH).pdf Blood 3-5ml in EDTA    
MPL in myeloproliferative neoplasms (MPN) download PDF iconMPL exon 10 mutation analysis in MPN.pdf   MPL  
Myeloproliferative neoplasms, see JAK2 and MPL       
MRD (Minimal Residual Disease) analysis in Childhood Acute Lymphoblastic Leukaemia download PDF iconMinimal Residual Disease (MRD) analysis in Childhood Acute Lymphoblastic Leukaemia (ALL).pdf Bone marrow 3-5 mls ACD tube Immunoglobulin and T-cell receptor gene rearrangements  

Multiple myeloma FISH

IGH/MAF, IGHMAFB, IGH/FGFR3, 1q21 download PDF iconOncology FISH Service.pdf

Paraffin embedded timour tissue

IGH/MAF

IGHMAFB

IGH/FGFR3

 
Myotonic Dystrophy (Disease MIM 160900) download PDF iconMyotonic Dystrophy Type 1 – DMPK gene.pdf Blood 3-5ml in EDTA DMPK 605377
Non-small cell lung cancer (NSCLC) see Epidermal Growth Factor Receptor (EGFR)        
Osteopetrosis - Autosomal Dominant 
Osteopetrosis - Autosomal Recessive download PDF iconAutosomal Recessive or Infantile or Malignant Osteopetrosis (ARO).pdf
Blood 3-5ml in EDTA CLCN7
OSTM1
RANKL
602727
607649

Paediatric Cardiomyopathy download PDF iconPaediatric Cardiomyopathy.pdf

(Including genes for dilated cardiomyopathy, hypertrophic cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy; left ventricular non-compaction, syndromic and metabolic disorders)

Blood 3-5ml in EDTA See information sheet  
Phenylketonuria (PKU) download PDF iconPhenylketonuria (PKU) .pdf Blood 3-5ml in EDTA PAH 261600
Pregnancy loss (Fetal analysis) download PDF iconAnalysis of Solid Tissues .pdf Blood 1-2 mls in Li Hep
Skin/placenta - tissue culture media available from lab
   
Pregnancy loss (recurrent) - parental blood analysis Blood 10 mls in Li Hep    

Paroxysmal Kinesigenic Dyskinesia and benign

Familial infantile convulsions with or without Choreoathetosis
Blood 3-5ml in EDTA/DNA PRRT2 614386
Rapid Aneuploidy Screening (amniotic fluid, CVS, fetal blood, neonatal blood) download PDF iconRapid Aneuploidy Testing.pdf Blood 3-5ml in EDTA Blood 1ml in Li Hep
CVS transport media available from lab; amniotic fluid 10-20 mls in sterile universal
 
Smith-Lemli Opitz (Disease MIM 270400) download PDF iconSmith-Lemli-Opitz (SLOS).pdf Blood 3-5ml in EDTA DHCR7 602858
Spinal Muscular Atrophy (Disease MIM 253300) download PDF iconSpinal Muscular Atrophy (SMA).pdf
Blood 3-5ml in EDTA SMN 600354
Steroid Resistant Nephrotic Syndrome panel test (SRNS) download PDF iconSteroid Resistant Nephrotic Syndrome (SRNS).pdf Blood 3-5ml in EDTA See information sheet  
Supravalvular Aortic Stenosis - Elastin gene Blood 3-5ml in EDTA/DNA ELN 130160
Systemic Mastocytosis Blood 3-5ml in EDTA
Bone Marrow EDTA
c-KIT Exon 17  
Thrombocytopenia-Absent Radius Syndrome (TAR) (Chromosome 1q21.1 deletion syndrome) (Disease MIM 274000) download PDF iconMyotonic Dystrophy Type 1 – DMPK gene.pdf Blood 3-5ml in EDTA 1q21.1 microdeletion  
Y Microdeletion Analysis download PDF iconY chromosome microdeletion analysis.pdf
Blood 3-5ml in EDTA   415000
Zygosity analysis Blood 3-5ml in EDTA    

 Last updated: 23rd October 2017