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— Neonatal Respiratory Distress – Surfactant Dysfunction Bronchiectasis Retinal Dystrophy Panel Leber Congenital Amaurosis My Retina Tracker Program Epileptic Encephalopathy Beyond Paediatric Epilepsy Panel Leukodystrophy and Leukoencephalopathy Comprehensive Epilepsy Panel Bardet-Biedl Syndrome Ciliopathy Comprehensive Metabolism Panel Aicardi-Goutières Syndrome Microcephaly and Pontocerebellar Hypoplasia Lymphatic Malformations and Related Disorders Chondrodysplasia Punctata Brachydactyly / Syndactyly Primary Immunodeficiency Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Comprehensive Immune and Cytopenia Panel Autoinflammatory Syndrome Tuberous Sclerosis Hereditary Renal Cancer Hereditary Paraganglioma-Pheochromocytoma Hereditary Breast Cancer High Risk Comprehensive Hereditary Cancer Hereditary Leukemia Congenital Neutropenia Fanconi Anemia Comprehensive Immune and Cytopenia Congenital Hepatic Fibrosis Monogenic Obesity Panel Hypoglycemia, Hyperinsulinism and Ketone Metabolism Usher Syndrome Syndromic Hearing Loss Resonate Program Panel Comprehensive Hearing Loss and Deafness Hereditary Hemorrhagic Telangiectasia (HHT) Dilated Cardiomyopathy (DCM) Comprehensive Cardiology Hyperlipidemia Cardiomyopathy Interstitial Lung Disease Cystic Lung Disease Central Hypoventilation and Apnea Comprehensive Pulmonology Panel Vitreoretinopathy Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Glaucoma Ectopia Lentis Congenital Stationary Night Blindness Cataract Retinitis Pigmentosa Optic Atrophy Macular Dystrophy Flecked Retina Disorders Corneal Dystrophy Cone Rod Dystrophy Achromatopsia Spastic Paraplegia Nemaline Myopathy Migraine Panel LGMD and Congenital Muscular Dystrophy Idiopathic Generalized and Focal Epilepsy Dystonia Comprehensive Muscular Dystrophy / Myopathy Panel Collagen Type VI-Related Disorders Charcot-Marie-Tooth Neuropathy Ataxia Panel X-linked Intellectual Disability Spinal Muscular Atrophy Parkinson Disease Neuro-Ophthalmology Panel NCL and Progressive Myoclonic Epilepsy Metabolic Epilepsy Emery-Dreifuss Muscular Dystrophy Dementia Congenital Myasthenic Syndromes Autism Spectrum Disorders Amyotrophic Lateral Sclerosis Senior-Loken Syndrome Renal Malformation Primary Hyperoxaluria Polycystic Kidney Disease Nephronophthisis Hypophosphatemic Rickets Hemolytic Uremic Syndrome Cystic Kidney Disease Renal Tubular Acidosis Pseudohypoaldosteronism Primary Ciliary Dyskinesia Meckel Syndrome Joubert Syndrome Diabetes Insipidus Bartter Syndrome Mitochondrial Genome Test Purine and Pyrimidine Metabolism Disorders Peroxisomal Disorders Organic Acidemia/Aciduria & Cobalamin Deficiency Nephrolithiasis Mitochondrial DNA Depletion Syndrome Metabolic Liver Failure Hypomagnesemia Hyperphenylalaninemia Homocystinuria Core Panel Glycogen Storage Disorders Cystinuria Congenital Mono- and Disaccharide Disorders Congenital and Familial Lipodystrophy Coenzyme q10 Deficiency Tyrosinemia Porphyria Periodic Paralysis Nonketotic Hyperglycinemia / Glycine Encephalopathy Metabolic Myopathy and Rhabdomyolysis Lysosomal Disorders and Mucopolysaccharidosis Hyperammonemia and Urea Cycle Disorder Hereditary Hemochromatosis Fatty Acid Oxidation Syndrome Creatine Metabolism Deficiency Congenital Disorders of Glycosylation Vascular Malformations Skeletal Dysplasias Core Panel Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Seckel Syndrome Osteopetrosis and Dense Bone Dysplasia Neuronal Migration Disorder Micromelic Dysplasia Metaphyseal Dysplasia Macrocephaly / Overgrowth Syndrome Lissencephaly Kabuki Syndrome Gastrointestinal Atresia Exostosis and Related Disorders Cornelia de Lange Syndrome Comprehensive Short Stature Syndrome Panel Cleft Lip/Palate and Associated Syndromes Cerebral Cavernous Malformation Panel Arthrogryposes Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Skeletal Dysplasia with Abnormal Mineralization Septo-Optic Dysplasia Polymicrogyria Osteogenesis Imperfecta Meier-Gorlin Syndrome Limb Malformations Holoprosencephaly Facial Dysostosis and Related Disorders Craniosynostosis Comprehensive Skeletal Dysplasias and Disorders Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Amelogenesis Imperfecta and Dentinogenesis Imperfecta 3-M Syndrome / Primordial Dwarfism Complement System Disorder Severe Combined Immunodeficiency Dyskeratosis Congenita Chronic Granulomatous Disease Hereditary Pancreatic Cancer Core Panel Hereditary Lung Cancer Hereditary Gastrointestinal Cancer Hereditary Colorectal Cancer Xeroderma Pigmentosum Neurofibromatosis Hereditary Pediatric Cancer Hereditary Pancreatic Cancer Hereditary Melanoma and Skin Cancer Hereditary Endocrine Cancer Hereditary Cancer High Risk Hereditary Breast and Gynecological Cancer Comprehensive Hematology and Hereditary Cancer Red Blood Cell Membrane Disorder Hermansky-Pudlak Syndrome Hemophagocytic Lymphohistiocytosis Comprehensive Hematology Coagulation Factor Deficiency Bleeding Disorder/Coagulopathy Thrombocytopenia Platelet Function Disorder Diamond-Blackfan Anemia Bone Marrow Failure Syndrome Anemia Panel Pancreatitis Congenital Diarrhea Polycystic Liver Disease Hirschsprung Disease Cholestasis Kallmann Syndrome Hyperparathyroidism Glucocorticoid Deficiency Comprehensive Monogenic Diabetes Panel Premature Ovarian Failure MODY Panel Hypothyroidism and Resistance to Thyroid Hormone Panel Congenital Adrenal Hyperplasia Abnormal Genitalia/ Disorders of Sex Development Panel Stickler Syndrome Pendred Syndrome Branchio-Oto-Renal (BOR) Syndrome Waardenburg Syndrome Non-Syndromic Hearing Loss Alport Syndrome Palmoplantar Keratoderma Hereditary Acrodermatitis Enteropathica Ehlers-Danlos Syndrome Albinism Progeria and Progeroid Syndromes Pachyonychia Congenita Ichthyosis Epidermolysis Bullosa Ectodermal Dysplasia Cutis Laxa Adams-Oliver Syndrome Pulmonary Artery Hypertension (PAH) Marfan Syndrome Liddle Syndrome Hypertrophic Cardiomyopathy (HCM) Hyperlipidemia Core Panel Short QT Syndrome (SQTS) Noonan Syndrome Long QT Syndrome (LQTS) Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Heterotaxy and Situs Inversus Congenital Structural Heart Disease Panel Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel Brugada Syndrome Atrial Fibrilation Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Arrhytmia Aortic Disease