Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition. Read more: Genetic Counseling Article
Related Disease Conditions
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin...
Colon cancer is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from...
Polycythemia (High Red Blood Cell Count)
Polycythemia (elevated red blood cell count) is a rare blood disease in which the body produces too many red blood cells....
Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast...
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of...
Hemochromatosis (Iron Overload)
Hereditary hemochromatosis (iron overload) is an inherited disorder in which there is excessive accumulation of iron in the body....
Sickle Cell Disease (Sickle Cell Anemia)
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal...
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of...
Type 2 Diabetes
Type 2 diabetes is a condition in which a person's pancreas does not produce enough insulin to meet the needs of the body....
Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely...
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the...
Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when...
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of the bones and tissues of the face....
ALS (Amyotrophic Lateral Sclerosis) Symptoms, Causes, Life Expectancy
Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks...
Fabry Disease (Symptoms and Life Expectancy)
Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in...
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and...
Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain....
Hyperparathyroidism is a disorder of the parathyroid glands. There are two types of hyperparathyroidism, primary and secondary....
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down...
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain....
Williams syndrome is a developmental disorder that affects many parts of the body. Signs, symptoms, characteristics and...
Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited...
Miscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a...
Ramsay Hunt Syndrome
Ramsay Hunt syndrome is an infection of a facial nerve that causes a red painful rash with blisters and facial paralysis. Other...
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes:...
Nature vs. Nurture Theory (Genes vs. Environment)
In the nature vs. nurture debate, "nature" represents our genetic makeup. These are the genes you have inherited from...
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes....
Alpha-1 Antitrypsin Deficiency (Symptoms, Treatment, Life Expectancy)
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the...
Type 1 vs Type 2 Diabetes (Similarities and Differences)
Diabetes mellitus is a metabolic condition in which a person's blood sugar (glucose) levels are too high. Over 29.1 million...
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the...
Fragile X Syndrome
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People...
Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the...
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications...
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral...
Loeys-Dietz syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz...
Pfeiffer syndrome, a rare genetic disorder, is characterized by craniosynostosis and other birth defects. There are three...
Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of...
Hirschsprung Disease (Symptoms, Causes, and Treatments)
Hirschsprung disease is an inherited condition that is present at birth (congenital) in which the nerves of parts of the large...
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the...
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood....
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the...
Face Blindness (Prosopagnosia)
Face blindness (prosopagnosia) is a condition that causes the inability to recognize faces. Face blindness may be caused by...
Porphyria is a group of disorders that affect the nervous system, skin, or both. Porphyria is often an inherited condition that...
Hereditary Angioedema (HAE)
Hereditary angioedema or HAE is a genetic disease that causes swelling of the skin and tissues beneath it. Symptoms of HAE...
Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor...
Kidney dysplasia is a condition in which one or both of a baby's kidneys do not develop normally. In kidney dysplasia, cysts...
Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are:...
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in...
Gaucher disease is caused by an inherited (genetic) defect in an enzyme glucocerebroside. Signs and symptoms for Gaucher...
Gardner's Syndrome (Familial Adenomatous Polyposis)
Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum...
There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major...
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is an inherited genetic condition. This syndrome is characterized by a dramatic, rapid...
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the...
Malignant hyperthermia is a severe reaction to certain drugs that are often used during invasive procedures or surgery. Certain...
Periodic Paralysis Syndrome (Types, Symptoms, Diagnosis, and Diet)
Periodic paralysis syndrome comprises several types of rare muscle diseases in which a person experiences temporary muscle...
Lipodystrophy (Acquired, Generalized, Inherited)
Lipodystrophy is a syndrome in which fat deposits accumulate all over the body, or sometimes just portions of it, like just the...
Epidermolysis Bullosa (EB)
Epidermolysis bullosa (EB) is a group of inherited diseases characterized by skin blistering, erosion, and fragility. EB affects...
Hunter Syndrome (Mucopolysaccharidosis II, MPS II)
Hunter syndrome (mucopolysaccharidosis II, MPS II) is an inherited or genetic disease. Signs and symptoms of Hunter syndrome...
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is an inherited (genetic) disease that attacks motor neurons (nerve cells) in the spinal cord. As...
Colon Cancer Prevention
Colo-rectal cancer is both curable and preventable if it is detected early and completely removed before the cancerous cells...
Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks...
Campomelic dysplasia is a rare inherited condition that may be life threatening. The condition affects the skeleton and...
Local ResourcesFind a local Geneticist, Ph.D. in your town
Treatment & Diagnosis
Prevention & Wellness
- Gene Changes May Put Childhood Cancer Survivors at Risk
- Many Women Who Get Breast Cancer Gene Test Don't Need It
- Scientists Spot Gene for Rare Disorder Causing Deafness, Blindness
- Sickle Cell Trait Tied to Higher Kidney Failure Risk for Blacks
- Too Few High-Risk Women Tested for Breast Cancer Gene: Survey
- Autism-Linked Genes Often Differ Between Siblings
- Genetic Tests May Not Change People's Unhealthy Ways
- Too Few Women Get Counseling Before Breast Cancer Gene Test: Study
- 1 in 3 Colon Cancers in Young People Has Genetic Link
- Fetal DNA Test May Also Help Spot Mom's Cancer, Study Finds
- Gene Testing Can Be Flawed, Study Finds
- Gene Therapy Shows Promise for Rare Immune Disorder
- 6 in 10 Americans Interested in Genetic Testing, Survey Finds
- Phone Counseling Helps Rural Women With Cancer Gene Tests
- Discovery of 100-Plus Genes Tied to Autism May Improve Treatments
- Better-Informed Women Order Fewer Prenatal Gene Tests, Study Finds
- 'Angelina Jolie Effect' Prompted More Testing for Breast Cancer Genes: Study
- Parents of a Child With Autism Often Forgo Further Childbearing: Study
- Whole-Genome Scans Not Quite Ready for Widespread Use: Study
- Most Americans Want Doctors' Help With Gene Test Results: Study
- Obesity Gene Tests May Not Hamper Weight-Loss Efforts
- Family Members of Kids With Cancer Also at Risk
- Many Black Women Prone to Gene-Driven Breast Cancer: Study
- Your Genetic Secrets May Not Be as Safe as You Think
- Genetic Disorder Test for Newborns May Speed Up Diagnoses
- Genetic Research Sheds Light on Jewish Diaspora
- Gene Studies Support 'Queen of Sheba' Legend
- Bonobo Genome Sheds Light on Their Links to Chimps, Humans
- Brave New World of Genetics Requires Safeguards, Experts Say
- Gene Tests May Not Drive Patients to More Medical Care
- Genetic Test May Spot Raised Autism Risk
- 'Blond Genes' May Vary Around the World
- Study: Gene Therapy for HIV Safe, But Effectiveness Still Unclear
- Researchers Find Gene Mutations That May Be a Key to Autism
- Gene Mapping for Healthy People No 'Crystal Ball'
- Health Highlights: Feb. 3, 2012
- Carriers of Breast Cancer Gene at Risk of Second Cancer
- New Clues on Genetic Causes of Autism
- Healthier Lifestyle After at-Home Genetic Test?
- Concerns Raised About Drugstore Genetic Test
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