Genes Can Be Silently Carried in a Family for Generations
It's now possible to know much more about the genetic background of your family. When planning to start or expand a family, DNA testing will help you, your significant other and your doctor learn what mutations you and your partner may carry and the chances of your children inheriting mutations or variants that cause genetic diseases.
While family history can be an important indicator, it alone cannot confirm whether a recessive genetic condition exists in you and your family. Recessive genetic conditions can be carried silently in a family for generations, with no one being affected. Genetic testing can tell you whether you are a carrier of a gene mutation, which could mean a risk for passing the associated condition to your children. Pathway's Pre-Pregnancy Planning Report covers 37 recessive genetic conditions, such as cystic fibrosis.
What It Means to Be a Carrier
Understand how recessive genetic conditions can be carried and
passed to your children
- Being a Carrier
- A person who has one "normal" and one defective gene for a recessive genetic condition is a carrier but typically does not develop the disease because the missing function is supplied by the "normal" copy of the gene. In recessive conditions, both copies of the gene must be defective for the person to develop the disease.
- What Are The Chances?
- If both parents are carriers, then each child has a 25% chance of having the disease, a 25% chance of inheriting normal genes, and a 50% chance of being a carrier. If only one parent is a carrier, then each child has a 50% chance of being a carrier, but the children are very unlikely to have the disease.
List of Conditions Tested
We test for many recessive genetic conditions including many recommended by the American College of Medical Genetics and by the American College of Obstetrics and Gynecology.
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Cystic Fibrosis
- Cystic Fibrosis: Cystic fibrosis is one of the most common genetic diseases, affecting over 70,000 people worldwide. It is a complex disease involving several organs including the lungs and pancreas. The diagnostic feature of cystic fibrosis is the secretion of thick mucus in the lungs that leads to chronic and persistent respiratory infections, which may lead to respiratory failure.
In certain ethnic groups, such as Caucasians and Ashkenazi Jews, as many as 1 in 31 people may be carriers of a cystic fibrosis variant. Cystic fibrosis has an incidence of 1 in 25,000 to 30,000 births in Caucasians. In contrast, the incidence of cystic fibrosis in Hispanic Americans, African Americans and Asian Americans is 1 in 13,500, 1 in 15,100 and 1 in 35,000, respectively.
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Tay-Sachs Disease
- Tay-Sachs is a devastating inherited disease, commonly found in Ashkenazi Jews, that damages nerve cells and causes neurological problems. Early symptoms such as progressive muscle weakness and loss of motor skills appear between three and six months of age. Seizures, mental retardation, hearing and vision loss, as well as paralysis may follow; children with Tay-Sachs disease do not live beyond the age of five years.
Among Ashkenazi Jews, 1 in 27 people are carriers of a Tay-Sachs variant, leading to an incidence of Tay-Sachs of 1 in 3600 live births. In contrast, the incidence of Tay-Sachs disease in the general American population is 1 in 320,000 live births. French Canadian Catholics and Louisiana Cajuns also have high rates of Tay-Sachs disease.
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Beta-Thalassemia
- Beta-thalassemia is an inherited blood disorder or anemia. In the most severe form of beta-thalassemia (typically called thalassemia major or Cooley‘s anemia), the patient requires lifelong blood transfusions to survive. In the less severe form of beta-thalassemia (called thalassemia intermedia), the patient has significant anemia, but does not require blood transfusions.
This disease is found most frequently in people of Mediterranean, Middle Eastern, African, South Asian (Indian, Pakistani, etc.), Southeast Asian and Chinese descent. In certain areas of India and Asia, the incidence of beta-thalassemia is 1 in 2000 births.
All Conditions We Test For in the Pre-pregnancy Planning Report
How this information can empower you and your doctor
Finding out if you and/or your partner are cystic fibrosis carriers can give you valuable information before pregnancy. You can take the time to consult with your physician about your options.
Have a question? Want to know more? Contact UsBetter Family Planning
Pre-pregnancy
Get tested before you plan to get pregnant. Testing before pregnancy gives you and your doctor time to understand your options and can significantly reduce stress as you have time to prepare.
What if you are a carrier?
Knowing whether you carry a certain condition lets you consider whether your partner should be tested as well. If you and your partner carry a recessive disease variant, there is a 25% risk that your child will have the disease.
If both parents are carriers, then there are several options for you to consider in planning for a family that you can discuss with your physician or fertility clinic. These include Preimplantation Genetic Diagnosis (PGD), use of donor eggs or sperm, adoption, or mental and financial preparation for the possible birth of a special needs child. If you get tested during or after pregnancy, you can explore early childhood treatments with your physician.
For parents who already have children
Finding out you are a carrier means that your children could also be silent carriers of the condition. Even if they do not have the disease, your children could potentially pass the mutated gene to their children. Getting tested gives you a view into your family's genetic background.
Our genetic counselors are available to help you with any questions you may have. Contact a genetic counselor now.
Ethnicities at Risk
Some recessive genetic conditions are more prevalent in certain ethnic groups. A list of such conditions reported by Pathway Genomics is given below.
- Caucasian
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- Antitrypsin Deficiency
- Cystic fibrosis
- Hemochromatosis
- MCAD (Medium-chain acyl-coA dehydrogenase deficiency)
- Ashkenazi Jewish
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- Bloom syndrome
- Canavan disease
- Cystic fibrosis
- Familial dysautonomia
- Fanconi anemia
- Gaucher disease
- Mucolipidosis IV
- Niemann Pick disease
- Tay-Sachs disease
- Factor XI deficiency
- Familial Mediterranean fever
- Glycogen storage disease type I
- African
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- Hemoglobin C
- Asian
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- Beta-thalassemia
- Hemoglobin E
- Middle Eastern
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- Familial Mediterranean fever
- Beta-thalassemia
“Your family’s medical history is important, but now you can fill in the gaps with vital information previously unknown.”
Linda Wasserman, M.D., Ph.D Director of Clinical Genetics, Pathway GenomicsUsing Your Kit
It's simple and easy to use
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Step 1. Ask your Doctor
Your physician will then order your Personal Genetic Report. You will receive a Saliva Collection Kit, which contains everything you need to get started.
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Step 2. Activate your kit
Go to activate and follow the easy step-by-step instructions to create your password-protected, secure online account.
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Step 3. Fill saliva tube
Provide 2ml of saliva in the tube, as marked on the side. To ensure there is sufficient DNA, rub your cheeks and swish the saliva around in your mouth.
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Step 4. Send it back
Place the saliva collection tube containing the sample into the prepaid envelope provided and return it to our secure, onsite federally CLIA certified laboratory.
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Step 5. Get your results
When your results are ready, you will be contacted by your physician. They will provide you with an easy-to-understand, comprehensive report of your DNA analysis.
Strong Science, Security & Service
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Strong Science
Pathway Genomics operates a Federally CLIA certified and California state licensed 11,000 square-foot facility. Our world-renowned science team and top geneticists stay at the forefront of research findings and operate the latest genetic testing platforms.
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Secure DNA Lockbox™
Once we receive your saliva sample, the confidentiality of your DNA is protected in our proprietary DNA Lockbox™.
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Expert Genetic Counselors
Customers and their physicians have access to our onsite staff of genetic counselors, all Board eligible or certified by the American Board of Genetic Counseling, to discuss details of the genetic report. Our customer service representatives and genetic counselors will, of course, answer any pre-purchase questions. Our genetic counselors are also available for individual genetic report interpretation and counseling.
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Harvard Health Publications
Harvard Health Publications, a division of Harvard Medical School, publishes current, practical, and authoritative health information, drawing on the expertise of the physicians at Harvard Medical School and its affiliated hospitals. Pathway Genomics is pleased to provide our customers with the latest health information from this respected institution.
Preview of Results
An easy-to-understand report will be posted to the user's secure member account.
From there it can be downloaded, printed or shared if desired.
- Know Yourself View the conditions by name on the left side of your report and whether the mutation is present on the right. If you desire more information about conditions, a full collection of information can be found in your members section under resources.
