For what diseases are gene tests available?

5/1/2008 · Kategori: GENETIK

For what diseases are gene tests available?

Currently, more than 1000 genetic tests are available from testing laboratories. Some gene tests available in the past few years from clinical genetics laboratories appear below. Test names and a de******ion of the diseases or symptoms are in parentheses. Susceptibility tests, noted by an asterisk, provide only an estimated risk for developing the disorder. Contact GeneTests for comprehensive information on test availability and genetic testing facilities.

Some Currently Available DNA-Based Gene Tests

Alpha-1-antitrypsin deficiency (AAT; emphysema and liver disease)
Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor ******** loss leading to paralysis and death)
Alzheimer's disease* (APOE; late-onset variety of senile dementia)
Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts and ovaries)
Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon and sometimes other organs)
Central Core Disease (CCD; mild to severe muscle weakness)
Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs)
Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male pseudohermaphroditism)
Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections)
Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting, deterioration, weakness)
Dystonia (DYT; muscle rigidity, repetitive twisting movements)
Emanuel Syndrome (severe mental retardation, abnormal development of the head, heart and kidney problems)
Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
Factor V-Leiden (FVL; blood-clotting disorder)
Fragile X syndrome (FRAX; leading cause of inherited mental retardation)
Galactosemia (GALT; metabolic disorder affects ability to metabolize galactose)
Hemophilia A and B (HEMA and HEMB; bleeding disorders)
Hereditary Hemochromatosis (HFE; excess iron storage disorder)
Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease)
Marfan Syndrome (FBN1; connective tissue disorder; tissues of ligaments, blood vessel walls, cartilage, heart valves and other structures abnormally weak)
Mucopolysaccharidosis (MPS; deficiency of enzymes needed to break down long chain sugars called glycosaminoglycans; corneal clouding, joint stiffness, heart disease, mental retardation)
Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy)
Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet)
Polycystic Kidney Disease (PKD1, PKD2; cysts in the kidneys and other organs)
Adult Polycystic Kidney Disease (APKD; kidney failure and liver disease)
Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death)
Sickle cell disease (SS; blood cell disorder; chronic pain and infections)
Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reflex disorders, explosive speech)
Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children)
Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis)
Thalassemias (THAL; anemias - reduced red blood cell levels)
Timothy Syndrome (CACNA1C; characterized by severe cardiac arrhythmia, webbing of the fingers and toes called syndactyly, autism)