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An inherited medical condition caused by a DNAabnormality.
Agenetic disorder is a disease that is caused by a change or mutation in anindividual DNA. There are three types of genetic disorders Single genedisorders, Chromosomal disorders, and Multifactorial disorders.
A geneticdisease is any disease that is caused by an abnormality in an individualgenome, the persons entire genetic makeup. The abnormality can range fromminuscule to major, from a discrete mutation in a single base in the DNA of asingle gene to a gross chromosome abnormality involving the addition orsubtraction of an entire chromosome or set of chromosomes. Some geneticdisorders are inherited from the parents, while other genetic diseases arecaused by acquired changes or mutations in a preexisting gene or group ofgenes. Mutations can occur either randomly or due to some environmentalexposure.
Predictive testing can identify mutations thatincrease a persons risk of developing disorders with a genetic basis, such ascertain types of cancer.
Carrier testing can be used to help couplesto learn if they carry, and thus risk passing to their children, a recessiveallele for genetic diseases such as cystic fibrosis, sickle cell anemia, andTay Sachs disease.
Monogenetic disorders are caused by a mutation ina single gene. The mutation may be present on one or both chromosomes (onechromosome inherited from each parent). Examples of monogenic disorders are:sickle cell disease, cystic fibrosis, polycystic kidney disease, and Tay Sachsdisease.
Most commontypes
Cystic fibrosis
Aninherited life threatening disorder that damages the lungs and digestivesystem.
Down syndrome
Agenetic chromosome 21 disorder causing developmental and intellectual delays.
Duchenne muscular dystrophy
Aninherited disorder of progressive muscular weakness, typically in boys.
Fragile X syndrome
Agenetic condition causing intellectual disability.
Hemophilia
Adisorder in which blood does not clot normally.
Huntingtons disease
Aninherited condition in which nerve cells in the brain break down over time.
Sickle cell anemia
Agroup of disorders that cause red blood cells to become misshapen and breakdown.
Thalassemia
Ablood disorder involving lower than normal amounts of an oxygen carryingprotein.
At MEHAK WELLNESS CENTRE, we carry outGENE ASSESSMENT for the following :
Wevery well know, at initial stages there are no symptoms. It can be diagnosedonly when revealed on the physical. But by then it is too late.