Genetic testing

Evidence-based neurology checklist on genetic testing: Diagnostic testing: goals and benefits To confirm or exclude a diagnosis in symptomatic subjects To refine a diagnosis the clinical features are not all present To refine a diagnosis when there is substantial overlap with other disorders To…

Diagnostic testing: goals and benefits

To confirm or exclude a diagnosis in symptomatic subjects
To refine a diagnosis the clinical features are not all present
To refine a diagnosis when there is substantial overlap with other disorders
To enable a timely follow-up to detect and treat complications early
To guide selection of appropriate disease-specific treatments
To facilitate enrolment into clinical trials
To provide reliable prognostic indicators
To estimate specific inheritance risks
To enable carrier testing and prenatal diagnosis
To avoid costly alternative diagnostic tests
To reduce uncertainty of unconfirmed diagnosis

Predictive (pre-symptomatic or carrier) testing: indications and limitations

Reproductive testing: types and benefits

Genetic testing techniques: conventional types

Genetic testing techniques: next generation sequencing

Reasons for a negative family history but positive genetic test result

Reasons for negative genetic tests

References

Related checklists

Genetic counselling