Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service Title: NGS website document Document reference number: 413.004 NHS Next Generation Sequencing Service at SDGS Table of Contents Table of Contents............................................................................................................................ 1 Testing Workflow ............................................................................................................................ 3 Library Preparation...................................................................................................................... 3 Data Analysis .............................................................................................................................. 3 Post analysis ............................................................................................................................... 5 Confirmation of variants detected by NGS .................................................................................. 5 Inborn Errors of Metabolism ............................................................................................................ 6 Rhabdomyolysis / Metabolic Myopathies ................................................................................................................... 6 Familial Hypercholesterolemia panel............................................................................................... 7 Musculoskeletal Service .................................................................................................................. 7 R101 Ehlers Danlos Syndrome (EDS) ....................................................................................................................... 7 R102 Osteogenesis Imperfecta ................................................................................................................................. 8 Musculoskeletal special panel ................................................................................................................................... 9 Familial Thoracic Aortic Aneurysm (FTAA) panel ...................................................................................................... 9 Hereditary Cancer Panels ............................................................................................................. 10 Breast and Ovarian cancer genes ........................................................................................................................... 10 Colorectal Cancer gene panels ............................................................................................................................... 10 Renal Cancer gene Panel ........................................................................................................................................ 11 Polycystic Disease Panels ............................................................................................................ 12 Polycystic Kidney and Liver Disease – non NHS patients and NHS interim to WGS............................................... 12 R193.1 Renal cystic panel – PKD1 .......................................................................................................................... 12 R193.3 Renal Cystic panel – interim to WGS .......................................................................................................... 12 Autosomal Dominant Tubulointerstitial Kidney Disease ........................................................................................... 12 Neurogenetic Disorders ................................................................................................................ 13 Neurogenetic Motor Disorders .................................................................................................. 13 Hereditary Spastic Paraparesis ............................................................................................................................... 13 Spinal Muscular Atrophy 29 gene panel .................................................................................................................. 15 Neurodegenerative Disorders ................................................................................................... 16 Familial Amyotrophic Lateral Sclerosis with or without Frontotemporal Dementia ................................................... 16 Dementia 27 gene panel .......................................................................................................................................... 17 Neurogenetic Movement Disorders ........................................................................................... 18 Hereditary Dystonia ................................................................................................................................................. 19 Hereditary Parkinsonism .......................................................................................................................................... 21 Hereditary Chorea 30 gene panel ............................................................................................................................ 23 Abnormal Metal Transport ....................................................................................................................................... 24 Paroxysmal neurological disorders ............................................................................................ 24 Hemiplegic Migraine ................................................................................................................................................ 24 Episodic Ataxia 11 gene panel ................................................................................................................................ 25 Hereditary Ataxia Stages 1 and 2 .............................................................................................. 25 Hereditary Ataxia (Stage 1) ..................................................................................................................................... 25 Hereditary Ataxia (Stage 2) ..................................................................................................................................... 30 Haematology disorders ............................................................................................................. 48 Bleeding & Thrombotic disorders ............................................................................................................................. 48 Bone Marrow Failure Disorders ............................................................................................................................... 49 Haems mini-panel .................................................................................................................................................... 50 R90.1 :: Bleeding and Platelet Disorders ................................................................................................................. 51 Date of issue: 15 Mar 2021 Version number: 10 Author: Miranda Durkie Authorised by: Richard Kirk Page 1 of 67 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service Title: NGS website document Document reference number: 413.004 R91.1 :: Cytopenia NOT Fanconi Anaemia .............................................................................................................. 54 R92.1 :: Rare Anaemia ............................................................................................................................................ 56 R96.1 :: Iron Metabolism Disorders NOT common HFE mutations ......................................................................... 59 R97.1 :: Thrombophilia with a likely monogenic cause ............................................................................................ 59 R124.1:: Combined factor V and VIII deficiency ...................................................................................................... 60 R229 :: Confirmed Fanconi or Bloom Syndrome ..................................................................................................... 60 R405.1 :: Hereditary Erythrocytosis ......................................................................................................................... 61 R406.1 :: Thrombocythemia .................................................................................................................................... 61 Gastrohepatology.......................................................................................................................... 61 R171: Cholestasis.................................................................................................................................................... 61 R173: Polycystic Liver disease ................................................................................................................................ 62 R331: Intestinal failure ............................................................................................................................................. 63 R172 Wilson Disease .............................................................................................................................................. 63 R175: Pancreatitis ................................................................................................................................................... 63 R177: