ACMG ACT Sheets and Algorithms contain guidelines for providers regarding positive newborn screening results, as well as specific scenarios in carrier screening, diagnostic testing, family history, secondary findings, and transitioning pediatric patients to adult healthcare.
The Genetic Testing Registry (GTR) is a database of 76,842 tests, searchable by condition/phenotype, gene, lab, and keyword. They are linked to GeneReviews for additional information.
GeneReviews is a database of genetic conditions, with each chapter written by experts in that particular condition and peer reviewed. There are currently 789 chapters, which are published online and can be searched by keyword.
Genetics Home Reference
Genetic Testing Questions
National Human Genome Research Institute
Frequently Asked Questions About Genetic Testing
The Rare Diseases Registry Program (RaDaR) is an informational website created to provide guidance to patient communities about creating disease registries that they may use to communicate with researchers. While it provides information about registry platforms and selecting the platform that aligns best with the goals of the given group, RaDaR itself does not store patient information.
NORD RareCare patient assistant programs help patients afford necessary medications and treatments through directly providing medication, providing financial assistance with insurance premiums or co-pays, helping with diagnostic testing, and helping with travel for clinical trials or to see a specialist.
Mountain States Regional Genetics Network has developed, as part of this grant cycle, an Approach to Genetic Diagnosis in Developmental Delay as well as other genetic resources which can be found here .
The American Academy of Pediatrics (AAP) and the American Academy of Neurology (AAN) both provide resources on their websites linked below, to help guide primary care clinicians through the testing and diagnostic work-up for a child with developmental delays.
- American Academy of Pediatrics (AAP)
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
- American Academy of Neurology (AAN)
Genetic and Metabolic Testing for children with Global Development Delay
Genetic Alliance Registry and Biobank (GARB) is available to nonprofits, and offers reduced rates for biobanking and registry services. Vendor laboratories also offer genetic testing analysis via microarray, RNA or DNA isolation, bioinformatics analysis, and customized kits. GARB has its own Institutional Review Board (IRB), which has reviewed each of its membership agreements, consent forms, and other documents.
Genes In Life
Testing Genetic Conditions