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Evaluation & Testing Decisions Toolkit

Differential Diagnosis

Genetic disease is an important consideration when evaluating a child with many different neurodevelopmental signs and symptoms. The purpose of this tool is to help you consider genetic factors in a differential diagnosis for the common pediatric presentations in neurology practice.

GeneTests GeneTests is a free medical genetics information resource. It contains: Laboratory Directory: find labs that perform genetic tests of interest. GeneReviews ( expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. GeneReviews articles also include a list of differential diagnosis conditions. GeneReviews Overviews: address the genetic components of broad categories of disease, for example, autism or hearing loss. GeneTests is best used after you have formulated an initial differential diagnosis. You can then search GeneTests or the Genetic Testing Registry (described below) for laboratories to perform genetic testing or learn more about a specific condition on the differential.

SimulConsult SimulConsult provides a simultaneous consult about a patients diagnosis using free decision support software. SimulConsult can help build a differential diagnosis that includes genetic conditions, and suggests other useful findings, including tests. Tips for Using SimulConsult: You will need to register for a free user account. Begin by entering your patients age and gender, and add prominent or unusual features to refine the differential diagnosis list, or, access the software through GeneReviews when you are considering a specific diagnosis. Click on a syndrome on the differential list to link to other resources. When your differential is long, SimulConsult can help match your patients features to the most likely candidates. For tips on using SimulConsult, including demo videos:

OMIM: Online Mendelian Inheritance in Man OMIM is a frequently-updated online catalog of genetic syndromes and gene associations. The full-text, referenced overviews contain information on all known Mendelian disorders and over 12,000 genes. You can search by a syndrome or gene name, or enter in clinical features ( to begin a genetic differential. Tips for Using OMIM: Enter the presenting symptoms of the individual, for example syndactyly AND developmental delay. When reviewing an OMIM article about a specific syndrome, review the Clinical Synopsis, available near the top of the page. This will give you an overview of the phenotypic variation of this particular syndrome. It does not, however, list the frequency that each symptom is present in individuals with the syndrome. Use the links on the right hand side of the page to find other resources on the syndrome. For more tips on using OMIM:

Published June 2013 NCHPEG All rights reserved

Genetic Testing Registry The Genetic Testing Registry (GTR) is a new, free, centralized resource for finding information about genetic tests and laboratories. It includes options for searching by test name, the clinical condition in question, genes, and labs. For tips on using the GTR:

UptoDate UptoDate requires a user subscription, and access is available through many hospital and academic networks. It is a decision support system that helps clinicians answer clinical questions quickly and easily at the point of care.

National Guidelines Clearinghouse The National Guidelines Clearinghouse is a publicly available resource that provides access to evidence-based clinical practice guidelines. Use the Clearinghouse to search for guidelines about patient evaluation and management.

Published June 2013 NCHPEG All rights reserved