Royal Devon University Healthcare NHS Foundation Trust

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Details

Genomics Laboratory, RILD Building Level 3, Barrack Road, Exeter
Exeter EX2 5DW , United Kingdom

Accreditation

Active UKAS 8092
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Accreditation Details

Accreditation Body

UKAS

Number

8092

Status

Active

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official UKAS records.

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Test Capabilities (119)

Standard Reference Description Category
HLA B27 HLA-B27 Biocompatibility (ISO 10993)
CADASIL (NOTCH3) CADASIL (NOTCH3) Molecular Diagnostics / PCR
Glucose-Galactose Malabsorption (SLC5A1) Glucose-Galactose-Malabsorption (SLC5A1) Molecular Diagnostics / PCR
1 & 4 (MEN1, CDKN1B) 1 & 4 (MEN1, CDKN1B) Other
11p15 maternal loss of heterozygosity testing in pancreatic tissue 11p15 maternal loss of heterozygosity testing in pancreatic tissue Other
Aarskog-Scott syndrome (FGD1) Aarskog-Scott syndrome (FGD1) Other
Acrodysostosis (PRKAR1A & PDE4D) Acrodysostosis (PRKAR1A & PDE4D) Other
Acute promyelocytic leukaemia (t(15;17)) Acute promyelocytic leukaemia (t(15;17)) Other
Alagille syndrome (JAG1, NOTCH2) Alagille syndrome (JAG1, NOTCH2) Other
Alveolar Capillary with Misalignment of Pulmonary Veins (FOXF1) Alveolar Capillary with Misalignment of Pulmonary Veins (FOXF1) Other
Anaemia (SLC19A2) Anaemia (SLC19A2) Other
Aortic Valve disease (NOTCH1) Aortic Valve disease (NOTCH1) Other
Atypical Progeriod Syndrome (LMNA) Molecular Genetics Atypical Progeriod Syndrome (LMNA) Molecular Genetics Other
B-cell clonality (IgH, IgK, IgL) B-cell clonality (IgH, IgK, IgL) Other
BCR-ABL kinase domain sequencing (BCR-ABL) BCR-ABL kinase domain sequencing (BCR-ABL) Other
Bosley-Salih-Alorainy syndrome (HOXA1, HOXB1) Bosley-Salih-Alorainy syndrome (HOXA1, HOXB1) Other
Brain Small-Vessel Disease with Haemorrhage (COL4A1 & COL4A2) Brain Small-Vessel Disease with Haemorrhage (COL4A1 & COL4A2) Other
Carney Complex (PRKAR1A) Carney Complex (PRKAR1A) Other
Charcot-Marie-Tooth hereditary neuropathy type 2B1 (LMNA) Charcot-Marie-Tooth hereditary neuropathy type 2B1 (LMNA) Other
Chondrodysplasia punctata (EBP, ARSE, PEX7, GNPAT, AGPS) Chondrodysplasia punctata (EBP, ARSE, PEX7, GNPAT, AGPS) Other
Chronic Neutrophilic Leukaemia and Atypical CML (CSF3R) Chronic Neutrophilic Leukaemia and Atypical CML (CSF3R) Other
Chronic lymphocytic leukaemia (TP53, RB1 / DLEU / MIRN15A-16 region, ATM, trisomy 12) Chronic lymphocytic leukaemia (TP53, RB1 / DLEU / MIRN15A-16 region, ATM, trisomy 12) Other
Cole Disease (ENPP1) Cole Disease (ENPP1) Other
Combined Pituitary Hormone deficiency (HESX1, POU1F1, PROP1, LHX3, LHX4) Combined Pituitary Hormone deficiency (HESX1, POU1F1, PROP1, LHX3, LHX4) Other
Cone Rod Dystrophy (GUCY2D ) Cone Rod Dystrophy (GUCY2D ) Other
Congenital Fibrosis of the extraocular muscles (KIF21A, PHOX2A, TUBB3) Congenital Fibrosis of the extraocular muscles (KIF21A, PHOX2A, TUBB3) Other
Congenital Generalised lipodystrophy type 1 (AGPAT2, BSCL2, CAV1, PPARG, PTRF) Congenital Generalised lipodystrophy type 1 (AGPAT2, BSCL2, CAV1, PPARG, PTRF) Other
Congenital abnormalities of the kidney and urinary tract and VACTERL (TRAP1) Molecular Genetics Congenital abnormalities of the kidney and urinary tract and VACTERL (TRAP1) Molecular Genetics Other
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome (NSDHL) Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome (NSDHL) Other
Congenital hypothyroidism (FOXE1, NKX2-1, PAX8, TSHR, TPO, TG, DUOX2, THRA) Congenital hypothyroidism (FOXE1, NKX2-1, PAX8, TSHR, TPO, TG, DUOX2, THRA) Other
Cystic Fibrosis (CFTR) – screen for 38 mutations Cystic Fibrosis (CFTR) – screen for 38 mutations Other
Deficiency (GH1, GHRHR) Deficiency (GH1, GHRHR) Other
Detection of Rhesus D fetal genotype using circulating cell free DNA Detection of Rhesus D fetal genotype using circulating cell free DNA Other
Detection of clinically relevant nucleic acid sequence variants Detection of clinically relevant nucleic acid sequence variants Other
Detection of clinically relevant nucleic acid sequence variants Molecular Genetics Detection of clinically relevant nucleic acid sequence variants Molecular Genetics Other
Dilated Cardiomyopathy type 1A (LMNA) Dilated Cardiomyopathy type 1A (LMNA) Other
Duane Retraction Syndrome (CHN1) Duane Retraction Syndrome (CHN1) Other
Duane radial ray syndrome (Okihiro syndrome) (SALL4) Duane radial ray syndrome (Okihiro syndrome) (SALL4) Other
Emery Dreifuss Muscular Dystrophy (LMNA) Emery Dreifuss Muscular Dystrophy (LMNA) Other
Exome sequencing Exome sequencing Other
Familial Glucocorticoid deficiency (MC2R, MCM4, MRAP, NNT, STAR) Familial Glucocorticoid deficiency (MC2R, MCM4, MRAP, NNT, STAR) Other
Familial Hepatic Adenomas due to bi-allelic inactivation of HNF1A (HNF1A) Molecular Genetics Familial Hepatic Adenomas due to bi-allelic inactivation of HNF1A (HNF1A) Molecular Genetics Other
Familial Hyperparathyroidism (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, RET) Familial Hyperparathyroidism (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, RET) Other
Familial Hypoparathyroidism (CASR, GCM2, GNA11, PTH) Familial Hypoparathyroidism (CASR, GCM2, GNA11, PTH) Other
Familial Isolated Pituitary Adenoma (AIP) Familial Isolated Pituitary Adenoma (AIP) Other
Familial Porencephaly (COL4A1, COL4A2, JAM3) Familial Porencephaly (COL4A1, COL4A2, JAM3) Other
Familial hypocalciuric hypercalcaemia (AP2S1, GNA11, CASR) Familial hypocalciuric hypercalcaemia (AP2S1, GNA11, CASR) Other
Familial partial lipodystrophy (LMNA, PPARG, PLIN1) Familial partial lipodystrophy (LMNA, PPARG, PLIN1) Other
Fanconi-Bickel syndrome (SLC2A2) Fanconi-Bickel syndrome (SLC2A2) Other
Feingold Syndrome (MYCN, MIR17HG) Feingold Syndrome (MYCN, MIR17HG) Other
Follicle centre cell lymphoma (t(14;18)) Follicle centre cell lymphoma (t(14;18)) Other
Gastrointestinal atresia (CFAP53, CHD7, FANCB, FANCC, GLI3, MID1, MYCN, RFX6, SOX2, TTC7A, EFTUD2, FOXF1) Gastrointestinal atresia (CFAP53, CHD7, FANCB, FANCC, GLI3, MID1, MYCN, RFX6, SOX2, TTC7A, EFTUD2, FOXF1) Other
Generalised Arterial Calcification of Infancy (ABCC6, ENPP1, NT5E) Molecular Genetics Generalised Arterial Calcification of Infancy (ABCC6, ENPP1, NT5E) Molecular Genetics Other
Haemochromatosis (HFE) Haemochromatosis (HFE) Other
Hairy Cell Leukaemia (BRAF) Hairy Cell Leukaemia (BRAF) Other
Hajdu-Cheney Syndrome (NOTCH2) Hajdu-Cheney Syndrome (NOTCH2) Other
Hanac Syndrome (COL4A1) Hanac Syndrome (COL4A1) Other
Hereditary Phaeochromocytoma / paraganglioma (RET, VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, FH, SDHA) Hereditary Phaeochromocytoma / paraganglioma (RET, VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, FH, SDHA) Other
Hirschsprung disease (RET) Hirschsprung disease (RET) Other
Holoprosencephaly (GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2) Holoprosencephaly (GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2) Other
Horizontal gaze palsy with progressive scoliosis (ROBO3) Horizontal gaze palsy with progressive scoliosis (ROBO3) Other
Hyperinsulinism (ABCC8, KCNJ11, HNF4A, GLUD1, GCK, HADH) Hyperinsulinism (ABCC8, KCNJ11, HNF4A, GLUD1, GCK, HADH) Other
Hyperphoshatemic familial tumoral calcinosis (GALNT3, FGF23, KL, SAMD9) Hyperphoshatemic familial tumoral calcinosis (GALNT3, FGF23, KL, SAMD9) Other
Hyperthyroidism & Congenital Hyperthyroidism & Congenital Other
Hypophosphatemic rickets (PHEX, FGF23, DMP1, ENPP1) Molecular Genetics Hypophosphatemic rickets (PHEX, FGF23, DMP1, ENPP1) Molecular Genetics Other
Hypophosphatemic rickets with Hypercalciuria (SLC34A3) Hypophosphatemic rickets with Hypercalciuria (SLC34A3) Other
Hypothyroidism (GLIS3) Hypothyroidism (GLIS3) Other
Hypothyroidism (TSHR) Hypothyroidism (TSHR) Other
IPEX Syndrome (FOXP3) IPEX Syndrome (FOXP3) Other
Inherited thrombophilia (F5, F2) Inherited thrombophilia (F5, F2) Other
Isolated Growth Hormone Isolated Growth Hormone Other
Kallmann syndrome (KAL1, FGFR1, FGF8, PROKR2, PROK2) Kallmann syndrome (KAL1, FGFR1, FGF8, PROKR2, PROK2) Other
Limb Girdle Muscular Dystrophy type 1b (LMNA) Limb Girdle Muscular Dystrophy type 1b (LMNA) Other
MELAS (mitochondrial m.3243A>G mutation) MELAS (mitochondrial m.3243A>G mutation) Other
Malignant Melanoma (BRAF) Malignant Melanoma (BRAF) Other
Mandibuloacral Dysplasia (ZMPSTE24, LMNA, POLD1) Mandibuloacral Dysplasia (ZMPSTE24, LMNA, POLD1) Other
Mandibulofacial dysostosis with microcephaly (EFTUD2, SF3B4) Mandibulofacial dysostosis with microcephaly (EFTUD2, SF3B4) Other
Mantle cell lymphoma (Cyclin D1) Mantle cell lymphoma (Cyclin D1) Other
Mantle cell lymphoma (t(11;14)) Mantle cell lymphoma (t(11;14)) Other
Maternal Cell Contamination & Maternal Cell Contamination & Other
Maturity-onset diabetes of the young (MODY) (GCK, HNF1A, HNF4A) Molecular Genetics Maturity-onset diabetes of the young (MODY) (GCK, HNF1A, HNF4A) Molecular Genetics Other
Medullary Thyroid Carcinoma (RET, RAS) Medullary Thyroid Carcinoma (RET, RAS) Other
Metastatic colorectal cancer (KRAS, NRAS, BRAF) Metastatic colorectal cancer (KRAS, NRAS, BRAF) Other
Mobius syndrome (PLXND1, REV3L) Mobius syndrome (PLXND1, REV3L) Other
Molecular Genetics Molecular Genetics Other
Molecular Genetics examination activities for the purpose of clinical diagnosis Molecular Genetics examination activities for the purpose of clinical diagnosis Other
Multiple Endocrine Neoplasia type 2 (RET) Multiple Endocrine Neoplasia type 2 (RET) Other
Multiple Endocrine Neoplasia types Multiple Endocrine Neoplasia types Other
Multiple Exostosis (EXT1, EXT2) Multiple Exostosis (EXT1, EXT2) Other
Myeloproliferative disorders (JAK2, MPL, CALR) Myeloproliferative disorders (JAK2, MPL, CALR) Other
Name of disease with name of analysed gene(s) in brackets Name of disease with name of analysed gene(s) in brackets Other
Neonatal Diabetes (ABCC8, KCNJ11, INS) Neonatal Diabetes (ABCC8, KCNJ11, INS) Other
Neonatal Diabetes and Congenital Neonatal Diabetes and Congenital Other
Neonatal Diabetes with Pancreatic and cerebellar agenesis (PTF1A) Neonatal Diabetes with Pancreatic and cerebellar agenesis (PTF1A) Other
Nestor-Guillermo Progeria Nestor-Guillermo Progeria Other
Non-Small cell lung cancer (EGFR) Non-Small cell lung cancer (EGFR) Other
Non-invasive prenatal diagnosis for monogenic diabetes Non-invasive prenatal diagnosis for monogenic diabetes Other
Pontocerebellar hypoplasia (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, PCLO, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VPS53, VRK1) Pontocerebellar hypoplasia (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, PCLO, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VPS53, VRK1) Other
Prediction of 5-fluorouracil toxicity (DPYD) Prediction of 5-fluorouracil toxicity (DPYD) Other
Prediction of Irinotecan toxicity (UGT1A1) Molecular Genetics Prediction of Irinotecan toxicity (UGT1A1) Molecular Genetics Other
Primary pigmented nodular adrenocortical disease (PRKAR1A, PDE8B, PDE11A) Primary pigmented nodular adrenocortical disease (PRKAR1A, PDE8B, PDE11A) Other
Pseudohypoaldosteronism type 2 (WNK1, WNK4, CUL3, KLHL3) Pseudohypoaldosteronism type 2 (WNK1, WNK4, CUL3, KLHL3) Other
Pseudoxanthoma elasticum (ABCC6 & ENPP1) Pseudoxanthoma elasticum (ABCC6 & ENPP1) Other
Pyridoxine dependent epilepsy (ALDH7A1) Pyridoxine dependent epilepsy (ALDH7A1) Other
Renal Cysts & Diabetes (RCAD) Renal Cysts & Diabetes (RCAD) Other
Restrictive Dermopathy (ZMPSTE24, LMNA) Restrictive Dermopathy (ZMPSTE24, LMNA) Other
SHORT syndrome (PIK3R1) SHORT syndrome (PIK3R1) Other
Specimen Source Identification Specimen Source Identification Other
Spondylocostal Dysostosis (DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2) Spondylocostal Dysostosis (DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2) Other
Syndrome (BANF1) Syndrome (BANF1) Other
Syndrome (HNF1B) Syndrome (HNF1B) Other
Systemic mastocytosis (KIT) Systemic mastocytosis (KIT) Other
T-cell clonality (TCRg, TCRb, TCRd) T-cell clonality (TCRg, TCRb, TCRd) Other
Thiamine Responsive Megaloblastic Thiamine Responsive Megaloblastic Other
Thyroid hormone resistance (THRB) Thyroid hormone resistance (THRB) Other
Visceral Heterotaxy (CFC1, ZIC3) Visceral Heterotaxy (CFC1, ZIC3) Other
Waldenstrom’s Macroglobulinemia (MYD88) Molecular Genetics Waldenstrom’s Macroglobulinemia (MYD88) Molecular Genetics Other
Werner Syndrome (WRN) Werner Syndrome (WRN) Other
X-linked Acrogigantism (GPR101) X-linked Acrogigantism (GPR101) Other

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