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
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Anemia
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin...
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Colon Cancer
Colon cancer is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from...
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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....
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Breast Cancer
Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast...
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Genetic Disease
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of...
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Hemochromatosis (Iron Overload)
Hereditary hemochromatosis (iron overload) is an inherited disorder in which there is excessive accumulation of iron in the body....
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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...
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Beta Thalassemia
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of...
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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....
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Pheochromocytoma
Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely...
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Marfan Syndrome
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the...
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Gilbert Syndrome
Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when...
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Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of the bones and tissues of the face....
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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...
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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...
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Ehlers-Danlos Syndrome
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and...
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Pick Disease
Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain....
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Hyperparathyroidism
Hyperparathyroidism is a disorder of the parathyroid glands. There are two types of hyperparathyroidism, primary and secondary....
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Down Syndrome
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down...
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Microcephaly
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain....
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Williams Syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. Signs, symptoms, characteristics and...
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Huntington's Disease
Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited...
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Miscarriage
Miscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a...
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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...
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Pregnancy Planning
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes:...
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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...
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MELAS Syndrome
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes....
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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...
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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...
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Birth Defects
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the...
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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...
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Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the...
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Achondroplasia
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications...
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Cerebral Palsy
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral...
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Loeys-Dietz Syndrome
Loeys-Dietz syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz...
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Pfeiffer Syndrome
Pfeiffer syndrome, a rare genetic disorder, is characterized by craniosynostosis and other birth defects. There are three...
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Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of...
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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...
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Alpha Thalassemia
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the...
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Phenylketonuria
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood....
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Angelman Syndrome
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the...
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Face Blindness (Prosopagnosia)
Face blindness (prosopagnosia) is a condition that causes the inability to recognize faces. Face blindness may be caused by...
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Porphyria
Porphyria is a group of disorders that affect the nervous system, skin, or both. Porphyria is often an inherited condition that...
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Hereditary Angioedema (HAE)
Hereditary angioedema or HAE is a genetic disease that causes swelling of the skin and tissues beneath it. Symptoms of HAE...
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Prader-Willi Syndrome
Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor...
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Kidney Dysplasia
Kidney dysplasia is a condition in which one or both of a baby's kidneys do not develop normally. In kidney dysplasia, cysts...
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Pycnodysostosis
Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are:...
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Noonan Syndrome
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in...
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Gaucher Disease
Gaucher disease is caused by an inherited (genetic) defect in an enzyme glucocerebroside. Signs and symptoms for Gaucher...
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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...
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Usher Syndrome
There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major...
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Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is an inherited genetic condition. This syndrome is characterized by a dramatic, rapid...
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Canavan Disease
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the...
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Malignant Hyperthermia
Malignant hyperthermia is a severe reaction to certain drugs that are often used during invasive procedures or surgery. Certain...
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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...
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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...
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Epidermolysis Bullosa (EB)
Epidermolysis bullosa (EB) is a group of inherited diseases characterized by skin blistering, erosion, and fragility. EB affects...
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Hunter Syndrome (Mucopolysaccharidosis II, MPS II)
Hunter syndrome (mucopolysaccharidosis II, MPS II) is an inherited or genetic disease. Signs and symptoms of Hunter syndrome...
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Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is an inherited (genetic) disease that attacks motor neurons (nerve cells) in the spinal cord. As...
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Colon Cancer Prevention
Colo-rectal cancer is both curable and preventable if it is detected early and completely removed before the cancerous cells...
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Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks...
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Campomelic Dysplasia
Campomelic dysplasia is a rare inherited condition that may be life threatening. The condition affects the skeleton and...
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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