Finding the mutation in a family with a recessive genetic disorder

There are many different kinds of genetic tests. Genetic tests are done using a blood or spit sample and results are usually ready in a few weeks. Because we share DNA with our family members, if you are found to have a genetic change, your family members may have the same change. Clinical genetic tests are different from direct-to-consumer DTC genetic tests, which can give some information about medical and non-medical traits.

Clinical genetic tests are ordered by your doctor for a specific medical reason.

DTC tests are usually purchased by healthy individuals who are interested in learning more about traits like ancestry, responses to medications, or risk for developing certain complex conditions. DTC test results can be used to make decisions about lifestyle choices or provide issues to discuss with your doctor. However, DTC tests cannot definitely determine whether or not you will get a disease and should not be used alone for decisions about your treatment or medical care.

Genetic testing for rare diseases

There is no single genetic test that can detect all genetic conditions. Single gene testing. Single gene tests look for changes in only one gene. Single gene testing is done when your doctor believes you or your child have symptoms of a specific condition or syndrome. Some examples of this are Duchene muscular dystrophy or sickle cell disease. Single gene testing is also used when there is a known genetic mutation in a family. Panel testing. A panel genetic test looks for changes in many genes in one test. Genetic testing panels are usually grouped in categories based on different kinds of medical concerns.

Some examples of genetic panel tests are low muscle tone, short stature, or epilepsy. Panel genetic tests can also be grouped into genes that are all associated with higher risk of developing certain kinds of cancer, like breast or colorectal colon cancer.

Now This Is How You Find Disease Genes

Large-scale genetic or genomic testing. Genetic testing for retinal degenerative diseases is relatively new. Several laboratories in the United States and elsewhere test for different retinal disease-causing genes. Because not all the RDD-causing genes and related variations have been identified, it is possible that, even if tested, you may not receive a definitive diagnosis.

A clinical diagnosis based on retinal phenotype and a consultation with a genetic counselor can give a clearer indication of the likelihood of finding the mutation that is causing your disorder. It is recommended that you use a known and dependable laboratory and not be tempted by genetic testing kits that may be marketed directly to the public.

In the United States, there is a rigorous review and inspection process for a genetic testing research laboratory to become certified to provide genetic testing. Test requisitions and samples are accepted only through a qualified physician or genetic counselor.


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Results are then returned to the same physician or counselor. The Foundation strongly recommends you begin by discussing the benefits, risks and limitations of genetic testing with an ophthalmologist, retinal specialist or a genetic counselor. If you and your healthcare provider agree to go ahead with testing, the doctor or genetic counselor orders a blood test and fills out forms provided by the testing laboratory. Some genetic testing laboratories also require the doctor or counselor to inform the lab by phone or email to expect your sample. You may be required to sign a consent form for DNA testing.

Many doctors are just learning about genetic testing for RDDs. You may want to share this booklet with your physician. Instructions from the laboratory will tell the doctor how much saliva or blood is needed — typically the equivalent to one or two spoonfuls; less for children — and what container to collect the saliva or blood sample in, along with shipping instructions. It can take several months for a CLIA lab to return a result, but for a research lab the time is often much longer, and could be several years before you learn of any result.

CLIA laboratories send test results to physicians and genetic counselors. Your doctor or counselor should contact you with the results of your test. If you have not received a result within the promised time period, contact the doctor or genetic counselor that arranged the test.

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Q Will knowing my genetic mutation qualify me for a research study or clinical trial? Knowing your genetic mutation does not automatically qualify you for a research study or clinical trial. However, clinical trials may specify a particular genetic mutation as one element of their multiple inclusion criteria. If you have a mutation a trial is looking for you will still have to meet all the other criteria of the trial such as stage of progression and other retinal function measures. If you register with My Retina Tracker, the Foundation Fighting Blindness supported registry for individuals with inherited retinal degenerative disease, you will be part of a database researchers can access when they need to reach out to individuals who have indicated they want to receive information about clinical trials and research studies.

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Visit the website to see if you qualify for enrollment in ongoing clinical trials based on your genetic testing results and other factors. However, always talk to your retinal health care provider, or contact the Foundation to guide you to an appropriate clinician, before you commit to a clinical trial that is listed on ClinicalTrials.

This is particularly important for any cell or stem-cell therapy listed on ClinicaTrials. This depends on several factors. In considering the total cost of genetic testing you should include your visit s to your physician, your genetic counseling session s , the sample collection itself and shipping your sample to the testing laboratory. Actual testing costs can be from about one hundred dollars to several thousand dollars depending on the number of genes being tested, the number of tests needed and the methodology used for the test s. Payment is usually due at the time the sample is submitted to the lab.

Some insurance companies are now offering coverage for certain types of genetic testing. Each lab has its own policy on whether they will bill insurance companies or require payment in advance. A gene therapy is a treatment for correcting a defective gene and the physical problems it causes. Researchers are experimenting with several approaches, all of which are called a gene therapy.

These include:.

Benefits and Risks of Genetic Testing

Most current gene therapies are experimental and have only been applied in preclinical settings i. A few have progressed to human studies. These studies progress systematically starting with Phase 1 safety then Phase 2 further safety and efficacy studies. Q What is the relationship of the Foundation Fighting Blindness to genetic testing and gene therapy?

The Foundation Fighting Blindness supports research to save and restore sight. For the past four decades, Foundation funding has helped advance a majority of the important advances in the field of retinal degenerative disease, including the discovery of genes responsible for RDDs and our support of that work continues. Q If they don't find my gene when my sample is tested, will it automatically be re-tested when new genes are identified OR will I have to go through the whole process and re-submit at another time, when more genes have been identified?

When you submit a sample to a CLIA-approved diagnostic lab, you are usually requesting a specific test for one gene or several closely related genes for one disease or several related diseases a panel. However, generally speaking, samples can be retested until the lab runs out of DNA. Retesting will usually require submission of additional paperwork and fees.

Heart Disease: Lifestyle or Genetics?

This reinforces the need for a good clinical diagnosis and genetic counseling. How can I learn more about genes and the progress being made to identify and treat my retinal disorder? Visit the Foundation Fighting Blindness website, www. The following academic, government, and nonprofit websites provide non-technical, easy-to-understand information on genetics and genetic testing:.

Take a tour of the basics. Genetics Home Reference — A service of the U. National Library of Medicine — A thorough handbook on many aspects of genetic testing including a glossary and more helpful links. InformedDNA — InformedDNA is a nationwide network of genetic experts available by telephone to help patients and providers with genetic counseling and health information. Genetic Alliance — Publications — The Genetic Alliance is a network that consists of disease-specific advocacy organizations, academic groups, private companies, government agencies, and public policy organizations.

Understanding Genetics: A Guide for Patients and Health Professionals is one of many downloadable publications that the Genetic Alliance makes available to patients and advocates. Eye on the Cure — A science blog authored by Dr. My Retina Tracker — The Foundation Fighting Blindness sponsored registry for individuals and families affected by inherited retinal degenerative diseases.

For specific information on genetic tests available and the requirements for submitting samples, visit the laboratory websites. There are many more laboratories than can be listed here. Gene Reviews - GeneReviews, is an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

National Society of Genetic Counselors — The NSGC website offers educational materials and events and an online search tool for finding genetic counselors in your area. InformedDNA — InformedDNA is a nationwide-network of genetics experts with a dedicated ophthalmic team available by telephone to help patients and physicians by providing information or counseling.