Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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Could a blood transfusion pass G6PD deficiency to a recipient? See answer
As an individual with G6PD deficiency, would living or traveling in a malaria risk country pose a greater risk to me compared with an individual who does not have this deficiency? See answer
Can women have symptoms of glucose 6 phosphate dehydrogenase (G6PD) deficiency? See answer
If glucose 6 phosphate dehydrogenase is needed to metabolize carbohydrates and it's missing, then what happens to the sugar in the blood? Where does it go? See answer
My brother has glucose 6 phosphate dehydrogenase (G6PD) deficiency. Most of the information I have found regarding this condition relates to children and infants. How can I find information specific to adults with this condition? How is this condition managed? See answer