Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic disorder, but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal copy of a gene associated with the disorder. Carrier screening is often performed prior to becoming pregnant or during pregnancy to allow for informed decision making. These tests most often help identify carriers of disorders that are childhood onset with severe symptoms, such as immunodeficiencies and several metabolic diseases.
A comprehensive menu of carrier screen tests are available through the Northwell Health Genetics Alliance. Commonly ordered tests are listed below.
Most cancer is not hereditary; however, some individuals develop cancer as a result of a harmful...
The clinical utiliy of cancer genomics in patient diagnosis and management is multifaceted; genetics are...
Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic...
Prenatal diagnostic testing refers to understanding the genotype of the fetus and is performed while...
Inherited heart conditions can affect people of any age and can be life-threatening. For many families...
Inherited neuropathies are a large group of genetically and phenotypically heterogeneous...
Disorders of sex differentiation, also known as disorders of sex development (DSD)...
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise...
Disorders of the endocrine system result in an imbalance of hormones which may be caused when the...
Genetic factors play a role in many kinds of eye disease, including those diseases that are the...
Some disorders of the blood are hereditary, meaning they are passed down from generation to...
Immunodeficiencies occur when part of the immune system does not function properly. The most...
Inherited metabolic disorders are genetic conditions that result in metabolism problems...
A common factor among mitochondrial diseases is that the mitochondria are unable to...
While most renal disorders are not hereditary, some kidney conditions have known hereditary genetic...
There are more than 100 rheumatic diseases and some have a genetic causative component...
Genetic disorders affecting the skeleton comprise a large group of clinically distinct and...
Genetic skin diseases, or genodermatoses, are hereditary conditions that mainly affect...
An HLA (human leukocyte antigen) disease association is defined as a statistically increased...
Special coagulation testing investigates the blood's ability to clot, and how long it takes...