Royal Devon University Healthcare NHS Foundation Trust

152 capabilities Verified Sep 2026 One of 2,380 in United Kingdom
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Details

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

Accreditation

Active UKAS 8092
+44 (0)1392 408265
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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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Other locations

Royal Devon University Healthcare NHS Foundation Trust Exeter Royal Devon University Healthcare NHS Foundation Trust Exeter Royal Devon University Healthcare NHS Foundation Trust Barnstaple Royal Devon University Healthcare NHS Foundation Trust Exeter Royal Devon University Healthcare NHS Foundation Trust Barnstable

Test Capabilities (152)
Standard Reference Description Category
A, C HLA-B27 | 4, 5, 7, 8 A, C HLA-B27 | 4, 5, 7, 8 Immunology / Serology
A Detection of Rhesus D fetal | 4, 5 A Detection of Rhesus D fetal | 4, 5 Molecular Diagnostics / PCR
A, B, C, D, E Exome sequencing | 1, 3, 7, 11, 12 A, B, C, D, E Exome sequencing | 1, 3, 7, 11, 12 Molecular Diagnostics / PCR
A, B, C, D, E, F Aarskog-Scott syndrome (FGD1) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Aarskog-Scott syndrome (FGD1) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Alagille syndrome (JAG1, NOTCH2) | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Alagille syndrome (JAG1, NOTCH2) | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Alveolar Capillary with Misalignment | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Alveolar Capillary with Misalignment | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Aortic Valve disease (NOTCH1) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Aortic Valve disease (NOTCH1) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Atypical Progeriod Syndrome | 1, 3, 4, 5, 8, 10 A, B, C, D, E, F Atypical Progeriod Syndrome | 1, 3, 4, 5, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Bosley-Salih-Alorainy syndrome | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Bosley-Salih-Alorainy syndrome | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Brain Small-Vessel Disease with | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Brain Small-Vessel Disease with | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Charcot-Marie-Tooth hereditary | 1, 3, 5, 7, 8 A, B, C, D, E, F Charcot-Marie-Tooth hereditary | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
A, B, C, D, E, F Combined Pituitary Hormone | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Combined Pituitary Hormone | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Congenital Generalised | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Congenital Generalised | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Congenital abnormalities of the | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Congenital abnormalities of the | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Congenital hemidysplasia with | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Congenital hemidysplasia with | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Familial Glucocorticoid deficiency | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Familial Glucocorticoid deficiency | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Familial partial lipodystrophy | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Familial partial lipodystrophy | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Fanconi-Bickel syndrome (SLC2A2) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Fanconi-Bickel syndrome (SLC2A2) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Generalised Arterial Calcification of | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Generalised Arterial Calcification of | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Hajdu-Cheney Syndrome | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Hajdu-Cheney Syndrome | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Hanac Syndrome (COL4A1) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Hanac Syndrome (COL4A1) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Hirschsprung disease (RET) | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Hirschsprung disease (RET) | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, D, E, F Restrictive Dermopathy | 1, 3, 4, 5, 8, 10 A, B, C, D, E, F Restrictive Dermopathy | 1, 3, 4, 5, 8, 10 Molecular Diagnostics / PCR
A, B, C, F CADASIL (NOTCH3) | 1, 3, 5, 7, 8, 10 A, B, C, F CADASIL (NOTCH3) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Carney Complex (PRKAR1A) | 1, 3, 5, 7, 8, 10 A, B, C, F Carney Complex (PRKAR1A) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Cole Disease (ENPP1) | 1, 3, 5, 7, 8, 10 A, B, C, F Cole Disease (ENPP1) | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Cone Rod Dystrophy (GUCY2D ) | 1, 3, 5, 7, 8 A, B, C, F Cone Rod Dystrophy (GUCY2D ) | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
A, B, C, F Congenital Fibrosis of the | 1, 3, 5, 7, 8, 10 A, B, C, F Congenital Fibrosis of the | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Cystic Fibrosis (CFTR) – screen for | 1, 3, 5, 7, 8 A, B, C, F Cystic Fibrosis (CFTR) – screen for | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
A, B, C, F Dilated Cardiomyopathy type 1A | 1, 3, 5, 7, 8, 10 A, B, C, F Dilated Cardiomyopathy type 1A | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Duane Retraction Syndrome | 1, 3, 5, 7, 8, 10 A, B, C, F Duane Retraction Syndrome | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Emery Dreifuss Muscular Dystrophy | 1, 3, 5, 7, 8, 10 A, B, C, F Emery Dreifuss Muscular Dystrophy | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Familial Hepatic Adenomas due to | 1, 2, 3, 5, 7, 8, 10 A, B, C, F Familial Hepatic Adenomas due to | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Familial Hyperparathyroidism | 1, 2, 3, 5, 7, 8, 10 A, B, C, F Familial Hyperparathyroidism | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Familial Hypoparathyroidism | 1, 3, 5, 7, 8, 10 A, B, C, F Familial Hypoparathyroidism | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Familial Isolated Pituitary Adenoma | 1, 2, 3, 5, 7, 8, 10 A, B, C, F Familial Isolated Pituitary Adenoma | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Familial hypocalciuric | 1, 3, 5, 7, 8, 10 A, B, C, F Familial hypocalciuric | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Glucose-Galactose Malabsorption | 1, 3, 5, 7, 8, 10 A, B, C, F Glucose-Galactose Malabsorption | 1, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Hereditary Phaeochromocytoma / | 1, 2, 3, 5, 7, 8, 10 A, B, C, F Hereditary Phaeochromocytoma / | 1, 2, 3, 5, 7, 8, 10 Molecular Diagnostics / PCR
A, B, C, F Prediction of 5-fluorouracil toxicity | 1, 3, 5, 7, 8 A, B, C, F Prediction of 5-fluorouracil toxicity | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
A, B, C, F Prediction of Irinotecan toxicity | 1, 3, 5, 7, 8 A, B, C, F Prediction of Irinotecan toxicity | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
A, B, C, F, H Systemic mastocytosis (KIT) | 1, 3, 5, 7, 8, 12 A, B, C, F, H Systemic mastocytosis (KIT) | 1, 3, 5, 7, 8, 12 Molecular Diagnostics / PCR
A, B, C, F, H Waldenstrom’s Macroglobulinemia | 1, 3, 5, 7, 8, 12 A, B, C, F, H Waldenstrom’s Macroglobulinemia | 1, 3, 5, 7, 8, 12 Molecular Diagnostics / PCR
A, B, H BCR-ABL kinase domain | 1, 3, 5, 8 A, B, H BCR-ABL kinase domain | 1, 3, 5, 8 Molecular Diagnostics / PCR
A, B, H Chronic lymphocytic leukaemia | 1, 2, 5, 7 ,6 ,8 A, B, H Chronic lymphocytic leukaemia | 1, 2, 5, 7 ,6 ,8 Molecular Diagnostics / PCR
A, B, H Follicle centre cell lymphoma | 1, 3, 5, 6, 8, 9 A, B, H Follicle centre cell lymphoma | 1, 3, 5, 6, 8, 9 Molecular Diagnostics / PCR
A, B, H, I B-cell clonality (IgH, IgK, IgL) | 1, 5, 6, 8 A, B, H, I B-cell clonality (IgH, IgK, IgL) | 1, 5, 6, 8 Molecular Diagnostics / PCR
A, C Haemochromatosis (HFE) | 4, 5, 7, 8 A, C Haemochromatosis (HFE) | 4, 5, 7, 8 Molecular Diagnostics / PCR
A, H Acute promyelocytic leukaemia | 1, 4, 5, 8 A, H Acute promyelocytic leukaemia | 1, 4, 5, 8 Molecular Diagnostics / PCR
A, H Chronic Neutrophilic Leukaemia | 1, 3, 5, 7, 8 A, H Chronic Neutrophilic Leukaemia | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
B Hairy Cell Leukaemia (BRAF) | 1, 3, 5, 7, 8 B Hairy Cell Leukaemia (BRAF) | 1, 3, 5, 7, 8 Molecular Diagnostics / PCR
B Non-Small cell lung cancer (EGFR) | 1, 3, 4, 5, 6, 7, 8 B Non-Small cell lung cancer (EGFR) | 1, 3, 4, 5, 6, 7, 8 Molecular Diagnostics / PCR
C. Saliva | 1. Polymerase Chain Reaction C. Saliva | 1. Polymerase Chain Reaction Molecular Diagnostics / PCR
DNA from blood, fresh&fixed tissue, | MG/SOP/NGS052 – Illumina DNA DNA from blood, fresh&fixed tissue, | MG/SOP/NGS052 – Illumina DNA Molecular Diagnostics / PCR
DNA from blood, fresh&fixed tissue, | MG/SOP/NGS056 – Setting up a DNA from blood, fresh&fixed tissue, | MG/SOP/NGS056 – Setting up a Molecular Diagnostics / PCR
DNA from blood, fresh&fixed tissue, | MGSOPNGS047 DNA from blood, fresh&fixed tissue, | MGSOPNGS047 Molecular Diagnostics / PCR
DNA from blood, fresh&fixed tissue, | MGSOPNGS048 DNA from blood, fresh&fixed tissue, | MGSOPNGS048 Molecular Diagnostics / PCR
DNA from blood, fresh&fixed tissue, | Novoseq 6000 and Novoseq x Plus DNA from blood, fresh&fixed tissue, | Novoseq 6000 and Novoseq x Plus Molecular Diagnostics / PCR
I. Cerebrospinal fluid (CSF) | (MG/SOP/MON044) I. Cerebrospinal fluid (CSF) | (MG/SOP/MON044) Molecular Diagnostics / PCR
J. Blood spots | (MGSOP/MON045) J. Blood spots | (MGSOP/MON045) Molecular Diagnostics / PCR
K Non-invasive prenatal diagnosis for | (MG/SOP/MON072) K Non-invasive prenatal diagnosis for | (MG/SOP/MON072) Molecular Diagnostics / PCR
K Non-invasive prenatal diagnosis for | 12 K Non-invasive prenatal diagnosis for | 12 Molecular Diagnostics / PCR
K Non-invasive prenatal diagnosis for | Diagnosis (MG/SOP/MON071) K Non-invasive prenatal diagnosis for | Diagnosis (MG/SOP/MON071) Molecular Diagnostics / PCR
K. Plasma | (MG/SOP/ABI012) K. Plasma | (MG/SOP/ABI012) Molecular Diagnostics / PCR
K. Plasma | (MG/SOP/HAE016) K. Plasma | (MG/SOP/HAE016) Molecular Diagnostics / PCR
K. Plasma | (MG/SOP/HAE019) K. Plasma | (MG/SOP/HAE019) Molecular Diagnostics / PCR
K. Plasma | (MGSOP/MON054) K. Plasma | (MGSOP/MON054) Molecular Diagnostics / PCR
K. Plasma | 2. Multiplex Ligation-dependant K. Plasma | 2. Multiplex Ligation-dependant Molecular Diagnostics / PCR
K. Plasma | 4. Taqman genotyping using the K. Plasma | 4. Taqman genotyping using the Molecular Diagnostics / PCR
Name of disease with name of | See Pages 1 - 3 Name of disease with name of | See Pages 1 - 3 Molecular Diagnostics / PCR
Name of disease with name of | See Pages 1 – 3 Name of disease with name of | See Pages 1 – 3 Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/ABI009) nucleic acid sequence variants | (MG/SOP/ABI009) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/HAE002) nucleic acid sequence variants | (MG/SOP/HAE002) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/HAE003) nucleic acid sequence variants | (MG/SOP/HAE003) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/HAE005) nucleic acid sequence variants | (MG/SOP/HAE005) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/HAE008) nucleic acid sequence variants | (MG/SOP/HAE008) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/HAE017) nucleic acid sequence variants | (MG/SOP/HAE017) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/LAB008) nucleic acid sequence variants | (MG/SOP/LAB008) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/MON027) nucleic acid sequence variants | (MG/SOP/MON027) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/MON028) nucleic acid sequence variants | (MG/SOP/MON028) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/MON043) nucleic acid sequence variants | (MG/SOP/MON043) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/MON045) nucleic acid sequence variants | (MG/SOP/MON045) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/MON055) nucleic acid sequence variants | (MG/SOP/MON055) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/PHA007) nucleic acid sequence variants | (MG/SOP/PHA007) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/SPE007) nucleic acid sequence variants | (MG/SOP/SPE007) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/SPE010) nucleic acid sequence variants | (MG/SOP/SPE010) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/SPE034) nucleic acid sequence variants | (MG/SOP/SPE034) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MG/SOP/SPE037) nucleic acid sequence variants | (MG/SOP/SPE037) Molecular Diagnostics / PCR
nucleic acid sequence variants | (MGSOP/ABI012) nucleic acid sequence variants | (MGSOP/ABI012) Molecular Diagnostics / PCR
nucleic acid sequence variants | 10. Targeted next generation nucleic acid sequence variants | 10. Targeted next generation Molecular Diagnostics / PCR
nucleic acid sequence variants | 11. Exome sequencing- whole nucleic acid sequence variants | 11. Exome sequencing- whole Molecular Diagnostics / PCR
nucleic acid sequence variants | 12. Droplet Digital PCR using the nucleic acid sequence variants | 12. Droplet Digital PCR using the Molecular Diagnostics / PCR
nucleic acid sequence variants | 5. Chemagic & Qiacube nucleic nucleic acid sequence variants | 5. Chemagic & Qiacube nucleic Molecular Diagnostics / PCR
nucleic acid sequence variants | 6. Analysis of fluorescently nucleic acid sequence variants | 6. Analysis of fluorescently Molecular Diagnostics / PCR
nucleic acid sequence variants | 7. Beckman Coulter Biomek Span nucleic acid sequence variants | 7. Beckman Coulter Biomek Span Molecular Diagnostics / PCR
nucleic acid sequence variants | 8. Manual DNA & RNA Extraction nucleic acid sequence variants | 8. Manual DNA & RNA Extraction Molecular Diagnostics / PCR
nucleic acid sequence variants | 9. Agarose gel electrophoresis nucleic acid sequence variants | 9. Agarose gel electrophoresis Molecular Diagnostics / PCR
A, B, C 11p15 maternal loss of | 1, 5, 6, 8 A, B, C 11p15 maternal loss of | 1, 5, 6, 8 Other
A, B, C, D, E, F Acrodysostosis (PRKAR1A & | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Acrodysostosis (PRKAR1A & | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Chondrodysplasia punctata (EBP, | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Chondrodysplasia punctata (EBP, | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Congenital hypothyroidism (FOXE1, | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Congenital hypothyroidism (FOXE1, | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Familial Porencephaly (COL4A1, | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Familial Porencephaly (COL4A1, | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Feingold Syndrome (MYCN, | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Feingold Syndrome (MYCN, | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Gastrointestinal atresia (CFAP53, | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Gastrointestinal atresia (CFAP53, | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Holoprosencephaly (GLI2, PTCH1, | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Holoprosencephaly (GLI2, PTCH1, | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Hyperinsulinism (ABCC8, KCNJ11, | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Hyperinsulinism (ABCC8, KCNJ11, | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Hyperphoshatemic familial tumoral | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Hyperphoshatemic familial tumoral | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F IPEX Syndrome (FOXP3) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F IPEX Syndrome (FOXP3) | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Isolated Growth Hormone | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Isolated Growth Hormone | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Kallmann syndrome (KAL1, FGFR1, | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Kallmann syndrome (KAL1, FGFR1, | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Limb Girdle Muscular Dystrophy | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Limb Girdle Muscular Dystrophy | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Mandibuloacral Dysplasia | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Mandibuloacral Dysplasia | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Mandibulofacial dysostosis with | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Mandibulofacial dysostosis with | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Maternal Cell Contamination & | 1, 5, 6, 8 A, B, C, D, E, F Maternal Cell Contamination & | 1, 5, 6, 8 Other
A, B, C, D, E, F Maturity-onset diabetes of the | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Maturity-onset diabetes of the | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Mobius syndrome (PLXND1, | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Mobius syndrome (PLXND1, | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Multiple Exostosis (EXT1, EXT2) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Multiple Exostosis (EXT1, EXT2) | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Neonatal Diabetes (ABCC8, | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Neonatal Diabetes (ABCC8, | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Neonatal Diabetes and Congenital | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Neonatal Diabetes and Congenital | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Neonatal Diabetes with Pancreatic | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Neonatal Diabetes with Pancreatic | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Nestor-Guillermo Progeria | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Nestor-Guillermo Progeria | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Pontocerebellar hypoplasia | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Pontocerebellar hypoplasia | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Renal Cysts & Diabetes (RCAD) | 1, 2, 3, 5, 7, 8, 10 A, B, C, D, E, F Renal Cysts & Diabetes (RCAD) | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F SHORT syndrome (PIK3R1) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F SHORT syndrome (PIK3R1) | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Spondylocostal Dysostosis (DLL3, | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Spondylocostal Dysostosis (DLL3, | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Thiamine Responsive Megaloblastic | 1, 3, 5, 7, 8 A, B, C, D, E, F Thiamine Responsive Megaloblastic | 1, 3, 5, 7, 8 Other
A, B, C, D, E, F Thyroid hormone resistance | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Thyroid hormone resistance | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Visceral Heterotaxy (CFC1, ZIC3) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Visceral Heterotaxy (CFC1, ZIC3) | 1, 3, 5, 7, 8, 10 Other
A, B, C, D, E, F Werner Syndrome (WRN) | 1, 3, 5, 7, 8, 10 A, B, C, D, E, F Werner Syndrome (WRN) | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Duane radial ray syndrome (Okihiro | 1, 3, 5, 7, 8, 10 A, B, C, F Duane radial ray syndrome (Okihiro | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Horizontal gaze palsy with | 1, 3, 5, 7, 8, 10 A, B, C, F Horizontal gaze palsy with | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Hyperthyroidism & Congenital | 1, 3, 5, 7, 8, 10 A, B, C, F Hyperthyroidism & Congenital | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Hypophosphatemic rickets (PHEX, | 1, 2, 3, 5, 7, 8, 10 A, B, C, F Hypophosphatemic rickets (PHEX, | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, F Hypophosphatemic rickets with | 1, 3, 5, 7, 8, 10 A, B, C, F Hypophosphatemic rickets with | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Medullary Thyroid Carcinoma (RET, | 1, 3, 5, 7, 8 A, B, C, F Medullary Thyroid Carcinoma (RET, | 1, 3, 5, 7, 8 Other
A, B, C, F Multiple Endocrine Neoplasia type 2 | 1, 3, 5, 7, 8, 10 A, B, C, F Multiple Endocrine Neoplasia type 2 | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Multiple Endocrine Neoplasia types | 1, 2, 3, 5, 7, 8, 10 A, B, C, F Multiple Endocrine Neoplasia types | 1, 2, 3, 5, 7, 8, 10 Other
A, B, C, F Primary pigmented nodular | 1, 3, 5, 7, 8, 10 A, B, C, F Primary pigmented nodular | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Pseudohypoaldosteronism type 2 | 1, 3, 5, 7, 8, 10 A, B, C, F Pseudohypoaldosteronism type 2 | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Pseudoxanthoma elasticum | 1, 3, 5, 7, 8, 10 A, B, C, F Pseudoxanthoma elasticum | 1, 3, 5, 7, 8, 10 Other
A, B, C, F Pyridoxine dependent epilepsy | 1, 3, 5, 7, 8, 10 A, B, C, F Pyridoxine dependent epilepsy | 1, 3, 5, 7, 8, 10 Other
A, B, C, F, G MELAS (mitochondrial m.3243A>G | 4, 5, 7, 8 A, B, C, F, G MELAS (mitochondrial m.3243A>G | 4, 5, 7, 8 Other
A, B, H Mantle cell lymphoma (t(11;14)) | 1, 3, 5, 6, 8, 9 A, B, H Mantle cell lymphoma (t(11;14)) | 1, 3, 5, 6, 8, 9 Other
A, B, H, I T-cell clonality (TCRg, TCRb, | 1, 5, 6, 8 A, B, H, I T-cell clonality (TCRg, TCRb, | 1, 5, 6, 8 Other
A, C Inherited thrombophilia (F5, F2) | 4, 5, 7, 8 A, C Inherited thrombophilia (F5, F2) | 4, 5, 7, 8 Other
A, C, F, H Myeloproliferative disorders (JAK2, | 1, 3, 4, 5, 7, 8, 12 A, C, F, H Myeloproliferative disorders (JAK2, | 1, 3, 4, 5, 7, 8, 12 Other
A, H Mantle cell lymphoma (Cyclin D1) | 1, 4, 5, 8 A, H Mantle cell lymphoma (Cyclin D1) | 1, 4, 5, 8 Other
B Malignant Melanoma (BRAF) | 1, 3, 5, 7, 8 B Malignant Melanoma (BRAF) | 1, 3, 5, 7, 8 Other
B Metastatic colorectal cancer (KRAS, | 1, 3, 5, 7, 8 B Metastatic colorectal cancer (KRAS, | 1, 3, 5, 7, 8 Other
K Non-invasive prenatal diagnosis for | (MG/SOP/SPE032 K Non-invasive prenatal diagnosis for | (MG/SOP/SPE032 Other
X-linked Acrogigantism (GPR101) | 1, 3, 5, 7, 8, 10, 12 X-linked Acrogigantism (GPR101) | 1, 3, 5, 7, 8, 10, 12 Other
nucleic acid sequence variants | MG/SOP/NGS025) nucleic acid sequence variants | MG/SOP/NGS025) Other

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