BGL Services

 

 

 

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

Acute Lymphoblastic Leukaemia Diagnosis download 

  And 

minimal residual disease download 

Bone Marrow in ACD

IKZF1

E2A (TCF3)

603023
Axenfeld-Rieger Syndrome download
(Disease MIM 180500, 602482)
Blood 3-5ml in EDTA PITX2 601542
Blood 3-5ml in EDTA FOXC1 601090
Barth Syndrome download  (Disease MIM 302060)
Blood 3-5ml in EDTA TAZ/G4.5 300394
BCR-ABL in CML download 
BCR-ABL in ALL download 
Blood 3-5ml in EDTA BCR-ABL 151410
Breast Cancer - BRCA predictive testing Blood 3-5ml in EDTA

BRCA1

BRCA21

113705

600185

Butyrylcholinesterase deficiency (Cholinesterase Unit, Clinical Biochemistry Dept)     177400

Cantu Syndrome (Hypertrichotic Osteochondrodysplasia) download

Blood 3-5ml in EDTA ABCC9 601439
Cardiology download Blood 3-5ml in EDTA See information sheet  
Cardiomyopathy download  Blood 3-5ml in EDTA See information sheet  
Charcot-Marie-Tooth download       
Chromosome analysis (child/adult) – postnatal, with/without FISH* (blood, solid tissue) download  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  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)
Blood 10 mls Li Hep;    
Other sample types please contact lab
Chronic Lymphocytic Leaukaemia (CLL) - mutational status of clonal IGVH gene rearrangements download       
Cockayne Syndrome (CS) download  Blood 3-5ml in EDTA ERCC6
ERCC8
609413
609412

Colorectal Cancer
   Microsatellite Instability and BRAF download

   Acquired KRAS mutation testing download 

Paraffin embedded tumour tissue MSI and BRAF

KRAS
164757

190070
Congenital Amegakaryocytic Thrombocytopenia (CAMT) download (Disease MIM 604498) Blood 3-5ml in EDTA MPL 159530
Congenital Central Hypoventilation Syndrome (CCHS) download  (Disease MIM 209880) Blood 3-5ml in EDTA PHOX2B 603851
Cystic Fibrosis download (Disease MIM 219700)
Blood 3-5ml in EDTA CFTR 602421

Cystinuria download 

Sequencing and MLPA

Blood 3-5ml in EDTA/DNA

SLC3A1

SLC7A9

104614

604144

DCML/MonoMAC syndrome/Emberger syndrome/susceptibility to AML/MDS download  Blood 3-5ml in EDTA/DNA GATA2  
Dermatofibrosarcoma protuberans
COL1A/PDGFB rearrangement by FISH download 
Paraffin embedded tissue CoL1A/PDGFB  
Distal Arthrogryposis download  Blood 3-5ml in EDTA/DNA TPM2 605204
Dysmorphism and/or developmental delay - microarray analysis download  Blood 3-5ml in EDTA    
Epidermal Growth Factor Receptor (EGFR)  download Paraffin embedded tumour tissue EGFR 131550
Ellis Van Creveld download (Disease MIM 225500) Blood 3-5ml in EDTA EVC 604831
EVC2

607261

Factor V and Prothrombin download 
Blood 3-5ml in EDTA F5 612309
F2 176930
Familial Hypercholesterolaemia  download  (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

FSHD Clinical Proforma download 

Blood 5-8ml in EDTA P13-e11 analysis  158900
4qA/B haplotype analysis 

Facioscapulohumeral Dystrophy (FSHD) 2 download 

& FSHD Clinical Proforma download 

4q35 methylation analysis  158901
SMCHD1 sequencing
FLT3-NPM1 in AML download 
Blood 3-5ml in EDTA FLT3-NPM1 136351
Fragile X Syndrome download 
Blood 3-5ml in EDTA FMR1 309550
Galactosaemia download 
Blood 3-5ml in EDTA GALT 230400
GIST (Gastrointestinal stromal tumour) download       
Gliomas: 1p36/19q13 FISH, Methylation of MGMT, IDH1/IDH2 sequencing,BRAF mutation analysis and KIAA1549-BRAF fusion analysis download 
MGMT , 1p19q and BRAF Brain Tumour test request form download 
Blood 3-5ml in EDTA 1p36/19q13
MGMT
IDH1/IDH2

156569
Hairy Cell Leukaemia

Blood 3-5ml in EDTA 

          or

Bone Marrow

BRAF 164757
Huntington Disease download
(Disease MIM 143100)
Blood 3-5ml in EDTA IT15 613004

Hypereosinophilic syndrome

PDGFRB rearrangement by FISH download 
Paraffin embedded tissue PDGFRB  
Hypertriglyceridaemia (HTG) download  Blood 3-5ml in EDTA See information sheet  
Immunoglobulin and T-cell receptor clonality testing in lymphoma download  Blood 3-5ml in EDTA    
Inherited Peripheral Neuropathies download       
        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
KBG syndrome download 
KBG Syndrome.pdf264.33 KB
Blood 3-5ml in EDTA ANKRD11 148050
Learning difficulties +/- dysmorphism - microarray analysis download  Blood 3-5ml in EDTA    
Liposarcoma CHOP rearrangement by FISH download  Paraffin embedded tissue CHOP  
Lymphoma - Immunoglobulin and T-cell receptor clonality testing download       
Medium Chain Acyl CoA Dehydrognase Deficiency (MCAD) download  Blood 3-5ml in EDTA ACADM 607008
Melanoma - BRAF analysis download Paraffin embedded tumour tissue BRAF 164757
Microarray analysis (developmental delay/learning difficulty +/- dysmorphism) download  Blood 3-5ml in EDTA    
Myeloproliferative neoplasms download  Blood 3-5ml in EDTA

JAK2 ( V617F &          Exon12), CALR, MPL 

 
MRD (Minimal Residual Disease) analysis in Childhood Acute Lymphoblastic Leukaemia download  Bone marrow 3-5 mls ACD tube Immunoglobulin and T-cell receptor gene rearrangements  

Multiple myeloma FISH

IGH/MAF, IGHMAFB, IGH/FGFR3, 1q21 download 

Paraffin embedded timour tissue

IGH/MAF

IGHMAFB

IGH/FGFR3

 

Myotonic Dystrophy (Disease MIM 160900) download 

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 
Blood 3-5ml in EDTA CLCN7
OSTM1
RANKL
602727
607649

Paediatric Cardiomyopathy download 

(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  Blood 3-5ml in EDTA PAH 261600
Pregnancy loss (Fetal analysis) download  Blood 1-2 mls in Li Hep
Skin/placenta - tissue culture media available from lab
   

Paroxysmal Kinesigenic Dyskinesia and benign

Familial infantile convulsions with or without Choreoathetosis download 
Blood 3-5ml in EDTA/DNA PRRT2 614386
Rapid Aneuploidy Screening (amniotic fluid, CVS, fetal blood, neonatal blood) download  Blood 3-5ml in EDTA Blood 1ml in Li Hep
CVS transport media available from lab; amniotic fluid 10-20 mls in sterile universal
 
Spinal Muscular Atrophy (Disease MIM 253300) download 
Blood 3-5ml in EDTA SMN 600354
Steroid Resistant Nephrotic Syndrome panel test (SRNS) download  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  Blood 3-5ml in EDTA 1q21.1 microdeletion  
Y Microdeletion Analysis download  Blood 3-5ml in EDTA   415000
Zygosity analysis Blood 3-5ml in EDTA    

 Last updated: 2nd June 2020