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Better options for your family.

When you’re pregnant or planning to become pregnant, you’re working to shape what will happen tomorrow and for many tomorrows to come. So you do everything you can to be prepared for what’s ahead. For many families today, that preparation includes carrier screening with GeneVu.

What is carrier screening?

Carrier screening is a type of genetic testing that can be done before or during pregnancy. It is used to see if you are a carrier of a genetic disorder that you could pass on to your child.

Being a carrier of a genetic disorder doesn’t mean you have that disorder. It just means you have a change (called a mutation) in one copy of a gene that could cause a genetic disorder. You and your partner both need to be carriers of the same disorder to be at increased risk. Most people don’t know they are carriers until after they’ve had screening because carriers typically do not have symptoms. Carrier screening is a critical step that can give you valuable information that can impact your family’s future.

Part of your pregnancy checklist

Carrier screening can provide you with information that might be helpful if you:

  • Are pregnant or planning a pregnancy
  • Have a family history of a genetic disorder
  • Are at increased risk for a specific disorder based on your ethnicity
  • Would like additional information about your reproductive risks

A safe and simple process

GeneVu carrier screening can begin at your doctor's office.


Select Your Tests

You and your doctor will select the disorders that you want GeneVu to test for. You can learn more about which tests to consider with the help of our ScreenSelect tool.


Provide a Sample

Your doctor's office will draw a blood sample or collect a saliva sample and ship it to our laboratory for analysis.


Get Your Results

Your results will be ready in 10-14 days. You can create a secure account at our PersonalVu site to see your results.


Make Your Plan

Schedule a complimentary consultation with one of our board-certified genetic counselors here.

The right tests for you

With GeneVu, you and your doctor can select the tests that matter most for you based on your medical and family history, your ethnicity, and the guidelines of leading medical organizations like the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG). If you like, you can learn more about which tests to consider with the help of our ScreenSelect tool.

Pan-Ethnic Tests for Common Disorders

Some genetic disorders are relatively common and carrier screening is recommended regardless of ethnic background.

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Ethnicity-specific tests for hemoglobinopathies

Hemoglobinopathies are a diverse group of blood disorders seen in various populations (For example, African Americans, Asians, Hispanics, and others).

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Tests for Ashkenazi Jewish Disorders

People of Ashkenazi Jewish descent typically have ancestors from Eastern Europe. While these disorders are most common in individuals of Ashkenazi Jewish descent, they may occur in people of other ethnic backgrounds.

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American Congress of Obstetricians and Gynecologists

American College of Medical Genetics and Genomics

Ashkenazi Jewish panel recommended by national Jewish advocacy societies (eg, Center for Jewish Genetics, Jewish Genetic Disease Consortium)

Cystic fibrosis (CF)

Cystic fibrosis affects many parts of the body, causing frequent lung infections, digestive problems, malnutrition, and male infertility. The severity of disease can range from mild to severe. With early treatment, the average life expectancy is into the 30s.

Fragile X syndrome

Fragile X syndrome is the most common cause of inherited intellectual disability. This disorder can cause varying degrees of developmental delay, autism, behavioral disorders, and characteristic facial features that become apparent with age. While fragile X syndrome can affect both sexes, it is more common and typically more severe in males. Life expectancy is normal. Women who are carriers of fragile X syndrome may have primary ovarian insufficiency or other symptoms associated with this disorder.

Spinal muscular atrophy (SMA)

Spinal muscular atrophy is typically an early-onset disorder with severe muscle weakness and progressive loss of voluntary muscle control. The most common form causes death in early childhood. In more mild cases, muscle weakness begins later in life and may result in the loss of the ability to walk.


Alpha-thalassemia can cause low levels of hemoglobin, a protein in the blood that carries oxygen throughout the body. The type and severity of alpha-thalassemia varies from mild to severe; severe alpha-thalassemia causes pregnancy complications, bone abnormalities, enlarged organs, and/or jaundice, and can result in early death. In the most severe cases, alpha-thalassemia can be lethal during pregnancy (most often seen in Southeast Asians). Carriers of alpha-thalassemia may have mild symptoms, such as isolated anemia (a decreased number of red blood cells).


Beta-thalassemia can cause low levels of hemoglobin, a protein in the blood that carries oxygen throughout the body. The type and severity of beta-thalassemia varies from mild to severe; severe beta-thalassemia causes bone abnormalities, enlarged organs, and/or jaundice that typically develop within the first few years of life. Mildly affected individuals may have slight anemia (decreased number of red blood cells) and may be at risk for iron overload.

Sickle cell disease

Sickle cell disease causes hemoglobin, a protein in the blood that carries oxygen throughout the body, to be abnormally shaped, so it does not work properly. This results in anemia (a decreased number of red blood cells), frequent infections, and periodic episodes of pain. Other complications include organ damage, stroke, and vision problems. Treatment involves regular blood transfusions.

Bloom’s syndrome

Bloom’s syndrome is characterized by poor growth leading to short stature and increased sensitivity to the sun. Gastroesophageal reflux and respiratory infections are very common in Bloom’s syndrome. Other symptoms include infertility or decreased fertility and an increased risk for early-onset cancer.

Canavan disease

Canavan disease causes brain and nervous system degeneration. Symptoms are typically present within the first few months of life and include an enlarged head, developmental delays, and poor muscle control. Life expectancy is into the teens, though some individuals with Canavan disease die in childhood.

Cystic fibrosis (CF)

Cystic fibrosis affects many parts of the body, causing frequent lung infections, digestive problems, malnutrition, and male infertility. The severity of disease can range from mild to severe. With early treatment, the average life expectancy is into the 30s.

Dihydrolipoamide dehydrogenase deficiency

Dihydrolipoamide dehydrogenase deficiency, also called lipoamide dehydrogenase (E3) deficiency or maple syrup urine disease type 3, causes very weak muscles, developmental delay, and abnormal/uncontrolled movements. Most affected individuals die in early infancy.

Familial dysautonomia

Familial dysautonomia causes problems with nerve development and function throughout the body. This results in problems with basic bodily functions such as swallowing, temperature regulation, blood pressure, and pain sensitivity. These symptoms typically get worse over time, and the life expectancy is typically into the 30s.

Familial hyperinsulinism

Familial hyperinsulinism causes significant hypoglycemia (low blood sugar) and abnormally high insulin. If untreated, these issues may cause a range of symptoms including lack of energy, irritability, and seizures. Symptoms typically begin in the first few days after birth, and treatment depends on the severity of symptoms. Brain damage, breathing problems, and even death are possible with poorly controlled episodes of low blood sugar.

Fanconi anemia (group C)

Fanconi anemia (group C) is a severe type of anemia (decreased number of blood cells) that may lead to bone marrow failure, physical abnormalities, intellectual disabilities, organ defects, and increased risk for certain types of cancer. With treatment, the current life expectancy is into the 30s.

Gaucher disease

Gaucher disease affects many of the body's organs and tissues and can range in severity from very early onset to very mild with few to no symptoms. Symptoms can include anemia (a decreased number of red blood cells), enlarged liver and spleen, and skeletal, respiratory, and nervous system problems. In the most severe cases, infants die within a few days of life. Gaucher disease may be treated with replacement of the missing protein or bone marrow transplant.

Glycogen storage disease type Ia

Glycogen storage disease type Ia affects the organs, specifically the liver and heart, as well as the muscles. Children typically develop an enlarged liver (hepatomegaly), which returns to normal during adolescence. During childhood, those with type IIIa may develop an enlarged heart, which can range from asymptomatic to congestive heart failure. Skeletal muscle weakness develops later and becomes evident in the 30s or 40s. For infants, a high-protein diet with frequent feeds is necessary to maintain blood sugar levels. Toward the end of their first year, cornstarch can be used throughout the day to avoid hypoglycemia. Those with severe liver disease may require a liver transplant.

Joubert syndrome 2

Joubert syndrome is a nervous system disorder that causes multiple brain abnormalities. Symptoms are highly variable and include decreased muscle tone, breathing and feeding difficulties, kidney/liver problems, other birth defects, and developmental delays. Life expectancy depends largely on the amount of brain, liver, and kidney problems.

Maple syrup urine disease type 1A/1B

Maple syrup urine disease is a variable disorder named for the sweet smell of the urine of affected individuals. Without treatment, people with this condition may have excessive fatigue, vomiting, intellectual disability, seizures, and early death. Treatment to reduce the complications associated with this disorder is possible using a strict diet.

Mucolipidosis type IV

Mucolipidosis type IV (MLIV) is a disorder that is often misdiagnosed as cerebral palsy in early infancy. It affects the brain and nervous system, causing delays in physical and mental development, as well as impaired vision. Individuals with mucolipidosis type IV typically live into adulthood but have reduced life expectancy.

Nemaline myopathy

Nemaline myopathy affects the muscles throughout the body. This disorder can cause progressive muscle weakness in the face, neck, arms, legs, and other areas throughout the body, causing problems with feeding and breathing and delayed walking. In severe cases, affected infants die within the first year of life; in more mild cases, children may learn to walk and have a longer life span.

Niemann-Pick disease type A/B

Niemann-Pick disease type A causes intellectual disability, progressive loss of early motor skills, feeding difficulties, and enlarged organs. It typically presents within the first few months of life and results in death between 2 to 4 years of age. Type B is less severe; symptoms typically include enlarged organs, short stature, and respiratory problems, including repeat infection. Clotting problems and later-onset heart problems may occur. Individuals with type B often live to adulthood but typically have a shortened life span.

Tay-Sachs disease

Tay-Sachs disease affects the nervous system, causing deterioration in mental and physical abilities. Symptoms typically begin between 3 and 6 months of age and progress to severe seizures and an unresponsive state, with death typically occurring by age 4.

Usher syndrome type III

Usher syndrome type III causes progressive loss of hearing and vision over time beginning in late childhood or adolescence and resulting in complete blindness and deafness by mid-adulthood. Intelligence and life expectancy are not typically affected.

Usher syndrome type IF

Usher syndrome type IF is characterized by profound deafness at birth, delayed motor development (due to the ear problems), and progressive vision impairment that begins in adolescence. Intelligence and life expectancy are not typically affected.

Walker-Warburg syndrome

Walker-Warburg syndrome causes brain and eye abnormalities that are typically present from birth. Affected individuals have severe developmental and intellectual disabilities and may suffer seizures. Life expectancy is less than 3 years.

The power to prepare

GeneVu is specifically designed to provide information that is easy to understand and useful to you as you plan your family’s future. That’s why we provide test results in a clear, simple format.

What do my results mean?

A negative test result means no mutations were found, which significantly reduces the chance that you are a carrier. However, no test can detect all possible mutations that could cause a disorder, so there is always a small chance (called a residual risk) of being a carrier even after a negative test result. Speak with your doctor or one of our genetic counselors to learn more about the residual risk and recommended next steps.

A positive test result means that a mutation was found, which means that you are a carrier and you are at increased risk to have a child with a genetic disorder. Many genetic disorders affecting children are autosomal recessive, meaning that a child needs to inherit 2 mutations, 1 from each parent, in order to have that disorder. Carriers of an autosomal recessive disorder themselves typically do not have health complications related to their carrier status because the normal gene will override the faulty one. If you test positive for being a carrier of an autosomal recessive disorder, your doctor will typically recommend that your reproductive partner be tested to see if he or she is a carrier of the same disorder. If both you and your partner are carriers of the same disorder, there is a 1 in 4 (or 25%) chance your baby will inherit the disorder.

Fragile X syndrome follows an X-linked inheritance pattern, which is different from autosomal recessive inheritance. More information can be obtained by speaking to your doctor or one of our board-certified genetic counselors.

Your reproductive options

For couples at increased risk for having a child with a genetic disorder, there are several reproductive options available, including:

  • Continue with family planning and pregnancy
  • Prenatal testing by chorionic villus sampling at 10 to 12 weeks of pregnancy or amniocentesis at 15 to 18 weeks of pregnancy
  • In vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) of the embryos prior to pregnancy
  • Egg or sperm donation; screening the donor for the specific high-risk disorder is recommended
  • Adoption

Talk it over with us

Our job isn’t over until you understand your results and feel ready for what’s next. We give you free access to a board-certified genetic counselor from Good Start Genetics, both when you’re making the decision to screen and when you receive your GeneVu results. Our counselors are experts who are trained to help you navigate the complex issues around genetic testing.

Need help with your carrier screening decision? Consider scheduling an appointment with a Good Start Genetics counselor today.

Get started

Considering carrier screening with GeneVu? See the resources Good Start Genetics has for you.

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