Diagnosis
Genetics
Understanding about genetics is important because it helps to explain why you are unique, why traits run in families, and why some diseases run in families. It also is an explanation of why changes in genes and chromosomes can cause conditions that result in disabilities.
Genes and Chromosomes
Genes and chromosomes explain the uniqueness of individuals as well as why features, traits and diseases occur in some families. Every living thing has a set of “blueprints”. These blueprints are called genetic code and they determine . . . Read more about Genes and Chromosomes
Genetic Changes
Changes in genes and chromosomes usually happen when a cell divides. This process of cell division works well most of the time, but sometimes a change in the order or number of the genes occurs. These changes are called mutations. Genetic changes can be improvements or . . . Read more of this story
Genetic Testing
Doctors sometimes recommend genetic testing to diagnose a medical condition or disability, determine if a medical condition will develop later in life, or discover the possibility of passing on a genetic trait in future children. Find out more about Genetic Testing
Types of Genetic Testing
- Diagnostic Testing – Confirms or rules out a known or suspected genetic disorder.
- Predictive Testing – For individuals who have no symptoms but have a family history of a genetic disorder.
- Carrier Testing – Identifies individuals who have inherited a gene mutation for a disorder but may not be showing symptoms. Carriers can pass on to future children the gene mutation, and, in the right combination with another carrier, have a child with the disorder.
- Prenatal Testing- Performed during a pregnancy when there is an increased risk of having a child with a genetic condition due to the mother’s age, family history, ethnicity, or due to abnormal results on an ultrasound. Routine prenatal diagnostic test procedures are amniocentesis and chorionic villus sampling (CVS). Find out more about some common prenatal tests.
- Newborn Screening – Identifies infants who have an increased chance of having a specific genetic disorder so that treatment can be started as soon as possible. Newborn screening is performed routinely at birth, unless specifically refused by the parents in writing. Newborn screening programs are usually legally mandated and vary from state to state. Find out more about newborn screenings.
– Predictive Testing – For individuals who have no symptoms but have a family history of a genetic disorder.
– Carrier Testing – Identifies individuals who have inherited a gene mutation for a disorder but may not be showing symptoms. Carriers can pass on to future children the gene mutation, and, in the right combination with another carrier, have a child with the disorder.
– Prenatal Testing- Performed during a pregnancy when there is an increased risk of having a child with a genetic condition due to the mother’s age, family history, ethnicity, or due to abnormal results on an ultrasound. Routine prenatal diagnostic test procedures are amniocentesis and chorionic villus sampling (CVS).
Find out more about some common prenatal tests.
–
Newborn Screening – Identifies infants who have an increased chance of
having a specific genetic disorder so that treatment can be started as
soon as possible. Newborn screening is performed routinely at birth,
unless specifically refused by the parents in writing. Newborn screening
programs are usually legally mandated and vary from state to state.
Find out more about newborn screenings.