Cerebrotendinous xanthomatosis – genetic testing for CTX
Cerebrotendinous xanthomatosis (CTX) is a rare genetic storage disorder. This disorder’s name derives from accumulations of cholesterol in the brain and tendons, these accumulations appear as yellow fatty tumors (nodules) known as xanthomas. CTX has a prevalence of 2 in 100,000 births, it is more frequent among Caucasian population. The genetic basis of CTX […]
Charcot-Marie-Tooth disease – genetic testing for CMT
Charcot-Marie-Tooth (CMT) is a genetic disorder that affects the peripheral nervous system. This is one of the most common inherited neurological diseases, with a prevalence of 36 per 100,000. Symptoms of CMT begin to appear during childhood but may also appear at later stages of life. The disease is more common in men than in […]
ALS – genetic testing for amyotrophic lateral sclerosis
ALS, also known as motor neuron disease or Lou Gehrig’s disease, is a neurodegenerative disorder that affects nerve cells in the peripheral and central nervous system related to muscle movement. Currently, there is no cure for ALS. Most people with this condition will live just two to three years after symptoms appear, twenty percent of […]
Adrenoleukodystrophy – ALD
Adrenoleukodystrophy, also known as ALD, is a hereditary disorder that affects the myelin sheath that covers nerve cells in the brain. This disorder affects mostly males, and rarely affects females. Substances known as c-24 and c-26 are found in patients’ blood in a concentration that is four times higher than in healthy people, these substances […]
Half-sibling DNA testing
Can DNA tests be used to find half brothers and sisters? Several laboratories offer genetic sibling tests, including half-sibling tests. These DNA tests compare the genetic material of one person to that of another, to determine the chances they are biologically related. Sibling tests are useful for proving kinship and are sometimes used to determine […]
Direct-to-consumer genetic testing (DTC)
Direct-to-consumer genetic testing (DTC) Gone are the days when general population was seen by the medical establishment and the pharmaceutical industry as mere patients. Today, people are transforming from patients to consumers, with many solutions, tests, and medical technologies now available at one’s own home. At-home genetic testing does not include just prenatal testing, that […]
