panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders

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1 NGS tests panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders UKGTN website lists 13 laboratories offering a total of 56 panel test

2 UKGTN listed panel tests Lab Disease 1 Alport Syndrome 5 Gene Panel 2 Arrhythmia/Cardiac Arrest 21 Gene Panel 3 Arrhythmogenic Right Ventricular Cardiomyopathy 8 Gene Panel 2 Arrhythmogenic Ventricular Myopathy 6 gene Panel 4 Bardet-Biedel Syndrome 13 Gene Panel 5 Brain Channelopathy Panel 11 Gene Panel 2 Brugada Syndrome 6 Gene Panel 2 Cardiomyopathies 36 Gene Panel 2 Catecholamingergic Polymorphic Ventricular Tachycardia 5 Gene Panel 6 Cerebral Malformation Disorders 8 Gene Panel 7 Charcot-Marie-Tooth Hereditary Neuropathy 54 Gene Panel 7 Chromosome Breakage Disorders 61 gene panel 8 Congenital Anaemia 33 Gene Panel 2 Congenital Cataract 108 Gene Panel 1 Congenital Myopathy 22 Gene Panel 5 Dementia 16 Gene Panel 2 Dilated Cardiomyopathy 22 Gene Panel 4 Early Infantile Epileptic Encephalopathy 45 Gene Panel 9 Epilepsy 53 Gene Panel 3 Familial Hyperparathyroidism 8 Gene Panel 3 Familial Hypertrophic Cardiomyopathy 16 Gene Panel 3,6 &10 Familial Pheochromocytomas and Paragangliomas 9 Gene Panel 1 Glycogen Storage Disease 18 Gene Panel 11 Glycogen Storage Disease 32 Gene Panel 9 Hereditary Motor and Sensory Neuropathy 50 Gene Panel 9 Hereditary Spastic Paraplegia 20 Gene Panel 2 Hypertrophic Cardiomyopathy 22 gene Panel 3 Inherited Ataxias 57 Gene panel Lab Disease 7 Inherited Bone Marrow Failure Syndromes 44 Gene Panel 3 Inherited Cardiomyopathies 28 Gene Panel 8 Iron Regulatory 16 Gene Panel 3 Joubert Syndrome and Related Disorders (JSRD) 18 Gene Panel 2 Long QT 12 gene Panel 1 Methylmalonic Acidemia 11 Gene Panel 3, 5 & 12 Mitochondrial Genome 37 Gene Panel 3, 5 & 12 Mitochondrial DNA Depletion 13 Gene Panel 2 Molecular Autopsy 57 Gene Panel 10 Monogenic Diabetes 14 Gene Panel 5 Muscle Channelopathy 5 Gene Panel 10 Neonatal Diabetes 22 Gene Panel 10 Nonsyndromic Holoprosencephaly 6 Gene Panel 13 Noonan Spectrum Disorders 12 Gene Panel 1 Nucleotide Excision Repair Disorder 16 Gene Panel 7 Osteopetrosis 21 gene panel 5 Parkinson Disease 6 Gene Panel 6 Primary Ciliary Dyskinesia 18 Gene Panel 4 Primary Immune Deficiencies 72 Gene Panel 3, 5 & 12 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 13 Gene Panel 2 Retinal Degeneration 105 Gene Panel 3 Retinal Degeneration 55 Gene Panel 7 Steroid Resistant Nephrotic Syndrome (SRNS) 16 Gene Panel 4 Syndromic and Non Syndromic Hearing Loss 95 Gene Panel 2 Thoracic Aortic Anuerysm 9 Gene Panel 1 Urea Cycle Defects 9 Gene Panel 11 Urea Cycle Disorders 6 Gene Panel 4 Very Early Onset Inflammatory Bowel Disease 40 Gene Panel

3 NGS gene panel tests Do the differences matter? different sets of genes be tested for the same disorder in different parts of the country missed diagnoses and poor patient care confusing for referring clinicians confusing for patients

4 Mechanism for defining consensus gene sets Formal approach: define what evidence should be used to inform the decision making to include a gene who multidisciplinary expert working groups co-ordination to ensure same evidence levels applied across different expert working groups output of the expert working groups to form part of the UKGTN genetic test evaluation process

5 January Gene dossier submissions from 7 labs Overlap within this group of dossiers Overlap with panels listed on the UKGTN website

6 Mechanism for defining consensus gene sets Informal approach Is there an interim, pragmatic, informal approach to agreeing minimum set of genes that should be tested for a given phenotype/group of disorders? If so what is it? Will it work for groups not using virtual panels?

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