CentoPedia
-
Hereditary Transthyretin Amyloidosis
Transthyretin gene (TTR) mutations are associated with an autosomal dominant disease leading to clinical symptoms through amyloid deposits, especially in the heart, but also in the lungs, blood vessels, and kidneys. Hereditary transthyretin amyloidosis …
-
Comprehensive pulmonary disease panel
Abnormal lung development and function is a factor in a wide range of genetic disorders, often causing severe symptoms within the first few weeks of life. Manifestations of pulmonary disease include abnormal development and functioning of the lungs, lung vasculature or connective tissue, lung cysts,…
-
MODY panel
Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of single-gene disorders.1,2 MODY is characterized by early onset of nonketotic diabetes mellitus caused by defective insulin production from the pancreatic beta-cells; it follows an autosomal dominant mode of…
-
Parkinson disease
Parkinson’s disease (PD) is a progressive neurodegenerative disorder manifested by a broad spectrum of motor and non-motor features. Characteristic features of PD include neuronal loss in specific areas of the Substantia nigra and widespread intracellular protein α-synuclein accumulation.
-
Hereditary (Partial) Epilepsy Panel
The hereditary (partial) epilepsy panel is a comprehensive gene panel of the key genes linked to heritable partial (focal) epilepsy. Partial epilepsy (also referred to as focal epilepsy) specifically refers to epilepsy that causes complex or simple seizures localized to one area of the brain only.…
-
Marfan, Loeys-Dietz Syndrome and Related Disorders Panel
Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndrome (EDS) and related disorders are all heritable connective-tissue disorders (HCTD). Many genes have been identified as a cause of a HCTD, most commonly they encode structural proteins, modifying enzymes or components of the…
-
Bone Marrow Failure
Bone Marrow Failure is a clinically and genetically heterogeneous collection of diseases affecting hematopoiesis, resulting in reduced or abnormal production of one or more of the three blood cell types (red blood cell, white blood cell and platelets). Symptoms and onset vary greatly depending on…
-
Comprehensive Dystonia Panel
Dystonias are a diverse spectrum of neurological movement conditions characterized by sustained muscle contractions (spasms) causing repetitive twisting movements or abnormal postures. Dystonia can be a chronic and disabling condition, localized to areas such as the head and neck or individual…
-
Myeloid Tumor Panel
Myeloid malignancies are clonal diseases of hematopoietic progenitor cells (cells that are capable of multiplying and producing additional blood cells of a particular lineage) resulting from genetic and epigenetic alterations that disrupt proliferation, differentiation and self-renewal of…
-
Familial Hypercholesterolemia Panel
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by severe elevations in total cholesterol and low-density lipoprotein cholesterol levels that lead to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age, leading to an…
