CENTOGENE GmbH Rostock

Healthy Volunteers

Gaucher Disease

Frontotemporal Dementia

Hypophosphatasia

Fever, Pneumonia, Cough

FXN Gene, FRDA, Hereditary Diseases

Pyruvate Kinase Deficiency

Hereditary Angioedema

Inborn Errors of Metabolism

Inborn Errors of Metabolism, Biomarker

Parkinson´s Disease

Colon Neoplasm, Colon Adenocarcinoma, Colon Cancer

Morquio Disease

Abdominal Pain, Functional Abdominal Pain

Lysosomal Storage Diseases, Gaucher Disease, Sphingolipidoses

Angiokeratomas, Chronic Kidney Disease, Ocular Abnormalities

Defective Mineralization

Renal Fanconi Syndrome, Photophobia, Hypophosphatemia

Mental Retardation, Developmental Delay

Splenomegaly, Hepatomegaly

Morquio Syndrome, Accumulation of Mucopolysaccharides, Morquio Syndrome A

Increased Lordosis/Scoliosis, Hyporeflexia, Duchenne Muscular Dystrophy

Niemann-Pick Disease, Niemann-Pick Disease, Type C

Lipoprotein Lipase Deficiency, Inborn Error of Lipid Metabolism, Corneal Arcus

Peripheral Neuropathy, Muscle Weakness

Krabbe Disease

Lysosomal Storage Disease, Lung Diseases, Obstructive Sleep Apnoea

Hepato-splenomegaly, Dysostosis Multiplex, Seizures

Cardiac Diseases, Muscular Weakness, Hepato-splenomegaly

Immunodeficiency, Skeletal Abnormalities, Deafness

Tyrosinosis, Hepatorenal Tyrosinemia, Fumarylacetoacetase Deficiency

Acid Lipase Deficiency, Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type, Cholesterol Ester Storage Disease

Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin Amyloid Cardiopathy

Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I

Farber's Lipogranulomatosis, Ceramidase Deficiency, Hepatomegaly

Nephritis, Hereditary, Hematuria-Nephropathy-Deafness Syndrome

Skeletal Abnormalities, Psychomotor Retardation

Meulengracht Syndrome, Hyperbilirubinemia, Unconjugated Benign Bilirubinemia

Chronic Nasal Congestion, Lung Infection, Breathlessness

Alpha-Mannosidase B Deficiency, Lysosomal Alpha B Mannosidosis, Alpha-Mannosidase Deficiency

Mucopolysaccharidosis Type I, Gargoylism, Metabolism, Inborn Errors

C1 Esterase Inhibitor Deficiency, Angio Edema, C4 Deficiency

Developmental Delay, Skeletal Abnormalities, Hepatomegaly

Intellectual Disability, Developmental Delay, Movement Disorder

Hunter Syndrome, Mucopolysaccharidosis II, Hunter's Syndrome, Mild Form

Hyalinosis, Hyaline Membrane Disease, Juvenile Hyaline Fibromatosis

Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches

Niemann-Pick Diseases

Wilson Disease

Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy

Polyneuropathy, Amyloid, Neuropathic Pain, Cardiac Failure

Cerebrovascular Accident, Stroke, Acute, Cerebral Stroke

Parkinson Disease, Idiopathic Parkinson Disease

Multiple Sclerosis

Fabry Disease, Fabry´s Disease, Anderson-Fabry Disease

Cerebrovascular Accident

Fabry Disease, Cerebrovascular Accident