GMS Test Order Form v1.3.pdf1.81 MB
| Bristol Genetics Laboratory services | Sample | Gene | OMIM | |
|---|---|---|---|---|
|
Acute Lymphoblastic Leukaemia Diagnosis download
Oncology FISH Service.pdf184.03 KB
And
minimal residual disease download |
Bone Marrow in ACD |
IKZF1 E2A (TCF3) |
603023 | |
|
Axenfeld-Rieger Syndrome download
|
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
Quantitative and Qualitative BCR-ABL1 analysis and ABL1 kinase domain mutation screening in CML.pdf141.98 KB
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 |
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| Butyrylcholinesterase deficiency (Cholinesterase Unit, Clinical Biochemistry Dept) | 177400 | |||
|
Cantu Syndrome (Hypertrichotic Osteochondrodysplasia) download
Cantú Syndrome.pdf205.58 KB
|
Blood 3-5ml in EDTA | ABCC9 | 601439 | |
| Cardiology download
Cardiac panel testing.pdf462.73 KB
|
Blood 3-5ml in EDTA | See information sheet | ||
| Cardiomyopathy download
Paediatric Cardiomyopathy.pdf327.85 KB
|
Blood 3-5ml in EDTA | See information sheet | ||
| Charcot-Marie-Tooth download | ||||
| Chromosome analysis (child/adult) – postnatal, with/without FISH* (blood, solid tissue) download
Postnatal Cytogenetic Analysis.pdf115.26 KB
|
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
Prenatal Genetic Testing.pdf241.35 KB
|
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
Oncology FISH Service.pdf184.03 KB
|
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
Cockayne Syndrome (CS).pdf205.89 KB
|
Blood 3-5ml in EDTA | ERCC6 ERCC8 |
609413 609412 |
|
|
Colorectal Cancer 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
Cystic Fibrosis (CF).pdf201.27 KB
(Disease MIM 219700) |
Blood 3-5ml in EDTA | CFTR | 602421 | |
|
Cystinuria download Sequencing and MLPA |
Blood 3-5ml in EDTA/DNA |
SLC3A1 SLC7A9 |
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| DCML/MonoMAC syndrome/Emberger syndrome/susceptibility to AML/MDS download
GATA2 Sequence Analysis.pdf206.71 KB
|
Blood 3-5ml in EDTA/DNA | GATA2 | ||
| Dermatofibrosarcoma protuberans COL1A/PDGFB rearrangement by FISH download
Oncology FISH Service.pdf184.03 KB
|
Paraffin embedded tissue | CoL1A/PDGFB | ||
| Distal Arthrogryposis download
Distal Arthrogryposis Service.pdf158.08 KB
|
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
EGFR and ALK testing in NSCLC.pdf137.35 KB
|
Paraffin embedded tumour tissue | EGFR | 131550 | |
| Ellis Van Creveld download
Ellis-van Creveld Syndrome.pdf189.85 KB
(Disease MIM 225500) |
Blood 3-5ml in EDTA | EVC | 604831 | |
| EVC2 | ||||
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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 | ||||
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Facioscapulohumeral Dystrophy (FSHD) 2 download & FSHD Clinical Proforma download |
4q35 methylation analysis | 158901 | ||
| SMCHD1 sequencing | ||||
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FLT3-NPM1 in AML download
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Blood 3-5ml in EDTA | FLT3-NPM1 | 136351 | |
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Fragile X Syndrome download
Fragile X syndrome (FMR1).pdf175.06 KB
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Blood 3-5ml in EDTA | FMR1 | 309550 | |
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Galactosaemia download
Galactosaemia.pdf173.28 KB
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Blood 3-5ml in EDTA | GALT | 230400 | |
| GIST (Gastrointestinal stromal tumour) download | ||||
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Gliomas: 1p36/19q13 FISH, Methylation of MGMT, IDH1/IDH2 sequencing,BRAF mutation analysis and KIAA1549-BRAF fusion analysis download
Glioma Service.pdf208.14 KB
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
Huntington Disease – HTT gene.pdf259.27 KB
(Disease MIM 143100)
|
Blood 3-5ml in EDTA | IT15 | 613004 | |
|
Hypereosinophilic syndrome PDGFRB rearrangement by FISH download
Oncology FISH Service.pdf184.03 KB
|
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 | |
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CMT X-Linked (Disease MIM 302800)
|
Blood 3-5ml in EDTA | GJB1 (CX32) | 304040 | |
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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 | |
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Distal Hereditary Motor Neuropathy Type 2B (Testing Criteria)/CMT CMT2F (Disease MIM 608634)
|
Blood 3-5ml in EDTA | HSPB1 | 602195 | |
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Distal Hereditary Motor Neuropathy Type 2A (Testing Criteria)/CMT Axonal CMT2L (Disease MIM 158590)
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Blood 3-5ml in EDTA | HSPB8 | 608014 | |
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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
Oncology FISH Service.pdf184.03 KB
|
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
Genetic Testing in Melanoma.pdf138.55 KB
|
Paraffin embedded tumour tissue | BRAF | 164757 | |
| Microarray analysis (developmental delay/learning difficulty +/- dysmorphism) download | Blood 3-5ml in EDTA | |||
| Myeloproliferative neoplasms download
Myeloproliferative neoplasia.pdf78.66 KB
|
Blood 3-5ml in EDTA |
JAK2 ( V617F & Exon12), CALR, MPL |
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| 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
Oncology FISH Service.pdf184.03 KB
|
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
Paediatric Cardiomyopathy.pdf327.85 KB
(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
Phenylketonuria (PKU) .pdf214.34 KB
|
Blood 3-5ml in EDTA | PAH | 261600 | |
| Pregnancy loss (Fetal analysis) download
Analysis of Solid Tissues.pdf69.69 KB
|
Blood 1-2 mls in Li Hep Skin/placenta - tissue culture media available from lab |
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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
Rapid Aneuploidy Testing.pdf100.83 KB
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Blood 3-5ml in EDTA | Blood 1ml in Li Hep CVS transport media available from lab; amniotic fluid 10-20 mls in sterile universal |
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Spinal Muscular Atrophy (Disease MIM 253300) download
Spinal Muscular Atrophy (SMA).pdf168.91 KB
|
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