Why Genetic Testing is Critical for Managing Neurological Disorders
Genetic testing for neurological disorders involves analyzing an individual's DNA to identify genetic variations that may contribute to or cause a neurological condition. The types of genetic testing available include diagnostic testing, which looks for specific genetic mutations known to cause a particular disorder, and predictive testing, which assesses an individual's risk of developing a condition based on their genetic makeup. Genetic testing can also be used for carrier testing to determine if an individual carries a genetic mutation that could be passed on to their children.
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In some cases, genetic testing may not provide a clear diagnosis, but it can help narrow down the possible causes of a neurological condition and inform treatment options. It is important to note that genetic testing is not always necessary or appropriate for every neurological disorder, and it should be carefully considered in consultation with a healthcare provider or genetic counselor.
75% Remain undiagnosed
Benefits Of Genetic Testing
Early diagnosis
Genetic testing can detect mutations linked to neurological disorders before symptoms appear, enabling early diagnosis and better outcomes.
Accurate diagnosis
Genetic testing can help to confirm a diagnosis, especially when symp- toms are non-specific or when there is uncertainty about the underlying cause of the disorder.
Personalized treatment
Genetic testing identifies mutations that may respond better to specific treatments, enabling personalized care tailored to each patient.
Family planning
Genetic testing for neurological disorders helps assess the risk of passing these conditions to children, supporting family planning.
Prognostic information
Genetic testing can provide prognostic information about the likely course of the disorder, which can help patients and their families prepare for the future.
Clinical trials
Genetic testing can identify patients who may be eligible for clinical trials of new treatments, which can provide access to novel therapies that may improve outcomes.
Gene List
Test Specifications
This panel may be appropriate for anyone who has a personal or family history of frequent infections, fevers, or rash, particularly if infections do not completely clear up or keep coming back, require hospitalization or IV antibiotics, or are caused by an uncommon organism
Acceptable Sample Requirements
Buccal swab or saliva
Reporting
Likely pathogenic and pathogenic variants
Turnaround Time
2-3 weeks Coverage _>96% at 20x
Customization
Customizable gene list
What To Do When Genetic Testing Comes Back Positive
Doctors may confirm the diagnosis
Confirm the diagnosis
If a genetic mutation is identified, doctors may confirm the diagnosis through further testing or clinical evaluation to determine the extent of the disease or condition.
Test results will be sent to your personal email
Update the patient and family.
The doctor will inform the patient and family about the diagnosis and genetic test results, including the option for genetic counseling.
An individual treatment plan is developed based on the diagnosis
Develop a treatment plan
The doctor will develop a treatment plan tailored to the specific disorder and the patient's individual needs. This may include medications, therapies, and lifestyle changes.
The treatment plan may be adjusted if the body does not respond.
Monitor the patient
The doctor will monitor the patient's condition and adjust treatment as necessary. Refer the patient and family to a genetic counselor for risk discussion and family planning.
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