Genetic Testing | Genetic Counseling

MaineHealth offers genetic testing to help patients and their families. Genetic tests and genetic counseling services include evaluation, diagnosis and healthcare management.

What is genetic testing?

Genetic testing is a type of medical test that looks for changes in chromosomes, genes and proteins. Genetic tests can show whether a patient has a genetic condition, has a chance of developing a genetic condition, or may pass down a genetic condition.  A genetic condition is a disease caused by abnormal DNA.

Common genetic conditions include:

  • Cystic fibrosis

  • Huntington’s disease

  • Down syndrome

  • Muscular dystrophy

  • Sickle cell anemia

  • Celiac disease

  • Bloom’s syndrome

Who should have genetic testing?

The decision to get a genetic test and genetic counseling is up to the patient and the patient’s family. Genetic testing is offered for adults and children. It also may be provided before conception, and during pregnancy. Talk to your doctor about genetic testing and genetic counseling.

A genetic counselor can talk about the pros and cons of genetic testing.

Types of genetic tests include:

  • Prenatal testing, including maternal serum screening, fetal ultrasound, amniocentesis and chorionic villus sampling;

  • Newborn screening to identify genetic disorders that can be treated at a young age;

  • Diagnostic testing to confirm or rule out a diagnosis;

  • Carrier testing can show a couple’s risk of having a child with a genetic condition;

  • Predictive and pre-symptomatic testing to help detect disorders that appear after birth and later in life.

Complete OB-GYN care

MaineHealth provides obstetrics and gynecology services at doctor’s offices, specialty clinics and community hospitals. The OB-GYNs at MaineHealth provide women’s reproductive care that is skilled and compassionate.
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