Cancer incidence is increasing worldwide is estimated that 1 in 2 people born after 1960 will be diagnosed with some form of cancer in their lifetime.

Age-related hearing loss (also known as presbycusis) is a decrease in hearing ability that happens with age. In most cases, the hearing loss affects both ears. It can begin as early as a person’s thirties or forties and worsens gradually over time.

Age-related hearing loss first affects the ability to hear high-frequency sounds, such as speech. Affected people find it increasingly difficult to understand what others are saying, particularly when there is background noise . However, because the hearing loss is gradual, many people do not realize they cannot hear as well as they used to. They may turn up the television volume or start speaking louder without being aware of it.

Patients identified with a hereditary susceptibility to hematologic disease or bone marrow failure can benefit from increased surveillance and preventative steps to better manage their risks. Knowing the genetic cause of the hematologic abnormalities in an individual also reveals the inheritance pattern within a family. As a result, your patient’s family members can be tested to help define the risk to themselves and their families. Because preventative action and surveillance should begin in childhood for some genes included in this panel, testing of minors may be appropriate.

Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. The liver normally contains some fat; an individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to 10 percent fat.

olycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood.

Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time.

Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder.

Bronchiectasis is a condition where the bronchial tubes of your lungs are permanently damaged, widened, and thickened. These damaged air passages allow bacteria and mucus to build up and pool in your lungs. This results in frequent infections and blockages of the airways.

There is no cure for bronchiectasis, but it is manageable. With treatment, you can typically live a normal life. However, flare-ups must be treated quickly to maintain oxygen flow to the rest of your body and prevent further lung damage.

Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.

Multiple endocrine neoplasia is a group of disorders that affect the body’s network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body.

A reproductive system condition defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse.

During pregnancy, some of the baby’s DNA passes into the mother’s bloodstream. The non-invasive prenatal test (NIPT) analyses the genetic information contained in this DNA to screen for a number of abnormalities. The test is particularly sensitive to Down syndrome.

Some laboratories also test the gender of the baby and look for problems with the sex chromosomes.

This term implies the determination of the sequence of most of the DNA content comprising the entire genome of an individual. In fact, however, there may be components of the genome that are not included in a present-day “whole genome sequence.”

Large-scale sequencing generates a variety of heterogeneous results. In many cases, the results will provide an explanation for a patient’s phenotype by identifying a mutation in a gene known to be associated with the patient’s clinical condition or in a gene that is highly likely to be causative given current knowledge. Such “diagnostic results” are qualitatively different from another class of results that will be regularly generated when employing these techniques: secondary findings (also called incidental or unanticipated findings). Examples include the finding of a previously unsuspected high risk of disease in the future or the discovery of an as yet clinically unrecognized disorder in an asymptomatic individual. This latter type of result is similar to the types of results generated when screening an asymptomatic individual.

Exome sequencing is a method of selective analysis in an exon area known to be where genes exist. It is a more effective and economical way of performing research than whole genome resequencing because it selectively analyzes only the genes obtained from current studies.

Human leukocyte antigen (HLA) typing is used to match patients and donors for bone marrow or cord blood transplants. HLA are proteins — or markers — found on most cells in your body. Your immune system uses these markers to recognize which cells belong in your body and which do not.

Preimplantation genetic diagnosis (PGD) is a procedure used prior to implantation to help identify genetic defects within embryos. This serves to prevent certain genetic diseases or disorders from being passed on to the child. The embryos used in PGD are usually created during the process of In Vitro Fertilization (IVF).