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Additional findings_Paediatric
Adult Cardiac SuperPanel
Alagille syndrome
Alagille syndrome
Alternating Hemiplegia and Hemiplegic Migraine
Alternating Hemiplegia and Hemiplegic Migraine
Amelogenesis imperfecta
Amelogenesis imperfecta
Aminoacidopathy
Aminoacidopathy
Renal Amyloidosis
Renal Amyloidosis
Angelman Rett like syndromes
Angelman Rett like syndromes
Anophthalmia_Microphthalmia_Coloboma
Anophthalmia_Microphthalmia_Coloboma
Aortopathy_Connective Tissue Disorders
Aortopathy_Connective Tissue Disorders
Arrhythmia_SuperPanel
Arrhythmogenic Cardiomyopathy
Arrhythmogenic Cardiomyopathy
Arthrogryposis
Arthrogryposis
Ataxia - paediatric
Ataxia - paediatric
Ataxia - adult onset
Ataxia - adult onset
Ataxia_Superpanel
Atrial Fibrillation
Atrial Fibrillation
Atypical Haemolytic Uraemic Syndrome_MPGN
Atypical Haemolytic Uraemic Syndrome_MPGN
Auditory Neuropathy
Auditory Neuropathy
Autism
Autism
Systemic Autoinflammatory Disease_Periodic Fever
Systemic Autoinflammatory Disease_Periodic Fever
Autonomic neuropathy
Autonomic neuropathy
Bardet Biedl syndrome
Bardet Biedl syndrome
Bleeding and Platelet Disorders
Bleeding and Platelet Disorders
Blepharophimosis
Blepharophimosis
Bone Marrow Failure
Bone Marrow Failure
Brain Calcification
Brain Calcification
Brain Channelopathies
Brain Channelopathies
Brugada syndrome
Brugada syndrome
Calcium and Phosphate disorders
Calcium and Phosphate disorders
Callosome
Callosome
Cancer Predisposition_Paediatric
Cancer Predisposition_Paediatric
Cardiomyopathy_Adult_SuperPanel
Cardiomyopathy_Paediatric
Cardiomyopathy_Paediatric
Cataract
Cataract
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypoventilation
Central Hypoventilation
Cerebellar and Pontocerebellar Hypoplasia
Cerebellar and Pontocerebellar Hypoplasia
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy
Cerebral Palsy
Cerebral Palsy
Cerebral vascular malformations
Cerebral vascular malformations
CGC_86
CGC_86
Choanal atresia
Choanal atresia
Cholestasis
Cholestasis
Chondrodysplasia Punctata
Chondrodysplasia Punctata
Chromosome Breakage Disorders
Chromosome Breakage Disorders
Chronic granulomatous disease
Chronic granulomatous disease
Ciliary Dyskinesia
Ciliary Dyskinesia
Ciliopathies
Ciliopathies
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Clefting disorders
Cobblestone Malformations
Cobblestone Malformations
Cobblestone Malformations
Cobblestone Malformations
Cobblestone Malformations
Combined Immunodeficiency
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Congenital Diarrhoea
Congenital Diarrhoea
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Congenital Disorders of Glycosylation
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Congenital Heart Defect
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Congenital Stationary Night Blindness
Corneal Dystrophy
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Craniosynostosis
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Cutis Laxa
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Deafness_IsolatedAndComplex
Deafness_IsolatedAndComplex
Defects of innate immunity
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Diabetes Insipidus
Diabetes Insipidus
Diamond Blackfan anaemia
Diamond Blackfan anaemia
Differences of Sex Development
Differences of Sex Development
Dilated Cardiomyopathy
Dilated Cardiomyopathy
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Dystonia - isolated/combined
Dystonia_Superpanel
Early-onset Dementia
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Early-onset Parkinson disease
Early-onset Parkinson disease
Ectodermal Dysplasia
Ectodermal Dysplasia
Ehlers Danlos syndromes
Ehlers Danlos syndromes
Epidermolysis bullosa
Epidermolysis bullosa
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Eye Anterior Segment Abnormalities
Eye Anterior Segment Abnormalities
Facial papules
Facial papules
Familial Generalised Epilepsy
Familial Generalised Epilepsy
Familial hypercholesterolaemia
Familial hypercholesterolaemia
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Familial hypoparathyroidism
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Fatty Acid Oxidation Defects
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BabyScreen+ newborn screening
BabyScreen+ newborn screening
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Glycogen Storage Diseases
Glycogen Storage Diseases
Growth failure
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Haematuria_Alport
Haematuria_Alport
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Haem degradation and bilirubin metabolism defects
Hair disorders
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Hereditary Neuropathy - complex
Hereditary Neuropathy - complex
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Hereditary Spastic Paraplegia - paediatric
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Hereditary Spastic Paraplegia - adult onset
Hereditary Spastic Paraplegia Superpanel
Heterotaxy
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Hirschsprung disease
Hirschsprung disease
Holoprosencephaly and septo-optic dysplasia
Holoprosencephaly and septo-optic dysplasia
Homologous_recombination_deficiency_WTS_UMCCR
Homologous_recombination_deficiency_WTS_UMCCR
Hydrocephalus_Ventriculomegaly
Hydrocephalus_Ventriculomegaly
Hydrops fetalis
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Hyperammonaemia
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Hyper-IgE syndrome
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Hypertrophic cardiomyopathy_HCM
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IBMDx study
IBMDx study
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Immune_markers_WTS_UMCCR
Immune_markers_WTS_UMCCR
Immunological disorders_SuperPanel
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Interstitial Lung Disease
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Joubert syndrome and other neurological ciliopathies
Kabuki syndrome
Kabuki syndrome
Kidneyome_SuperPanel
Leukodystrophy - adult onset
Leukodystrophy - adult onset
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Leukodystrophy - paediatric
Leukodystrophy_Superpanel
Limb and Digital Malformations SuperPanel
Limb-Girdle Muscular Dystrophy and Distal Myopathy
Limb-Girdle Muscular Dystrophy and Distal Myopathy
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Lipodystrophy_Lipoatrophy
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Lissencephaly and Band Heterotopia
Liver Failure_Paediatric
Liver Failure_Paediatric
Liverome Superpanel
Long QT Syndrome
Long QT Syndrome
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Lymphoedema_nonsyndromic
Lymphoedema_syndromic
Lymphoedema_syndromic
Lysosomal Storage Disorder
Lysosomal Storage Disorder
Mackenzie's Mission_Reproductive Carrier Screening
Mackenzie's Mission_Reproductive Carrier Screening
Macrocephaly_Megalencephaly
Macrocephaly_Megalencephaly
Macular Dystrophy/Stargardt Disease
Macular Dystrophy/Stargardt Disease
Malformations of cortical development_Superpanel
Malignant Hyperthermia Susceptibility
Malignant Hyperthermia Susceptibility
Mandibulofacial Acrofacial dysostosis
Mandibulofacial Acrofacial dysostosis
Maturity-onset Diabetes of the Young
Maturity-onset Diabetes of the Young
Medulloblastoma
Medulloblastoma
Melanoma
Melanoma
Mendelian susceptibility to Immune Disorders
Mendelian susceptibility to Immune Disorders
Mendeliome
Mendeliome
Metabolic Disorders Superpanel
Metal Metabolism Disorders
Metal Metabolism Disorders
Metaphyseal dysplasias
Metaphyseal dysplasias
Microcephalic Primordial Dwarfism and Slender bone dysplasias
Microcephalic Primordial Dwarfism and Slender bone dysplasias
Microcephaly
Microcephaly
Mirror movements
Mirror movements
Miscellaneous Metabolic Disorders
Miscellaneous Metabolic Disorders
Mitochondrial disease
Mitochondrial disease
Monogenic Diabetes
Monogenic Diabetes
Mosaic skin disorders
Mosaic skin disorders
Motor Neurone Disease
Motor Neurone Disease
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple joint dislocations and laxity
Multiple joint dislocations and laxity
Multiple pterygium syndrome_Fetal akinesia sequence
Multiple pterygium syndrome_Fetal akinesia sequence
Muscular dystrophy and myopathy_Paediatric
Muscular dystrophy and myopathy_Paediatric
Myopathy Superpanel
NCGC
NCGC
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation
Neurodegenerative disease - adult onset
Neuromuscular Superpanel
Neurotransmitter Defects
Neurotransmitter Defects
Nucleotide metabolism disorders
Nucleotide metabolism disorders
Ocular and Oculocutaneous Albinism
Ocular and Oculocutaneous Albinism
Oligodontia
Oligodontia
Optic Atrophy
Optic Atrophy
Osteogenesis Imperfecta and Osteoporosis
Osteogenesis Imperfecta and Osteoporosis
Osteopetrosis
Osteopetrosis
Overgrowth
Overgrowth
Pain syndromes
Pain syndromes
Palmoplantar Keratoderma and Erythrokeratoderma
Palmoplantar Keratoderma and Erythrokeratoderma
Pancreatitis
Pancreatitis
Paroxysmal Dyskinesia
Paroxysmal Dyskinesia
Periventricular Grey Matter Heterotopia
Periventricular Grey Matter Heterotopia
Peroxisomal Disorders
Peroxisomal Disorders
Phagocyte Defects
Phagocyte Defects
Pharmacogenomics_Paediatric
Pharmacogenomics_Paediatric
Photosensitivity Syndromes
Photosensitivity Syndromes
Pierre Robin Sequence
Pierre Robin Sequence
Pituitary hormone deficiency
Pituitary hormone deficiency
Pneumothorax
Pneumothorax
Polycystic liver disease
Polycystic liver disease
Polydactyly
Polydactyly
Polymicrogyria and Schizencephaly
Polymicrogyria and Schizencephaly
Predominantly Antibody Deficiency
Predominantly Antibody Deficiency
Prepair 1000+
Prepair 1000+
Prepair 500+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
Primary Ovarian Insufficiency_Premature Ovarian Failure
Progressive Myoclonic Epilepsy
Progressive Myoclonic Epilepsy
Progressive Neurological Conditions
Proteinuria
Proteinuria
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Pulmonary Arterial Hypertension
Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease
Radial Ray Abnormalities
Radial Ray Abnormalities
Rasopathy
Rasopathy
Red cell disorders
Red cell disorders
Regression
Regression
Renal cancer
Renal cancer
Renal Ciliopathies and Nephronophthisis
Renal Ciliopathies and Nephronophthisis
Renal Cystic Disease_SuperPanel
Renal Glomerular Disease_SuperPanel
Renal Macrocystic Disease
Renal Macrocystic Disease
Renal Tubulointerstitial Disease
Renal Tubulointerstitial Disease
Renal Tubulopathies and related disorders
Renal Tubulopathies and related disorders
Repeat Disorders
Retinal Disorders Superpanel
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis pigmentosa_Autosomal Recessive/X-linked
Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa_Autosomal Dominant
Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
Rhabdomyolysis and Metabolic Myopathy
Sarcoma
Sarcoma
Schwannomatosis
Schwannomatosis
Severe Combined Immunodeficiency (absent T present B cells)
Severe Combined Immunodeficiency (absent T present B cells)
Severe Combined Immunodeficiency (absent T absent B cells)
Severe Combined Immunodeficiency (absent T absent B cells)
Severe early-onset obesity
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Sick sinus syndrome
Sick sinus syndrome
Skeletal dysplasia
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Skeletal Muscle Channelopathies
Speech apraxia
Speech apraxia
Spondylocostal Dysostosis
Spondylocostal Dysostosis
Stickler Syndrome
Stickler Syndrome
Stroke
Stroke
Susceptibility to Fungal Infections
Susceptibility to Fungal Infections
Susceptibility to Viral Infections
Susceptibility to Viral Infections
Syndromic Retinopathy
Syndromic Retinopathy
TCGA_PANCAN_2018
TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
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Usher Syndrome
Usher Syndrome
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Vascular Malformations_Germline
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Vascular Malformations_Somatic
Vascular Malformations SuperPanel
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Ventricular Fibrillation
Ventricular Fibrillation
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Vitamin metabolism disorders
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Vitreoretinopathy
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Wilms Tumour Predisposition
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2.0
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05 Feb 2026
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.0
PFKM
Gene migrated from ENSG00000152556 to ENSG00000152556 (gene set migration)