Genomic Tools: Chromosomal Microarray

Provider Resources & References

OVERVIEW
Faucett WA, Savage M. Chromosomal microarray testing. JAAPA. 2012 Jan;25(1):65-6. http://journals.lww.com/jaapa/Fulltext/2012/01000/Chromosomal_microarray_testing.16.aspx Heil KM, Schaaf CP. The genetics of Autism Spectrum Disorders--a guide for clinicians. Curr Psychiatry Rep. 2013 Jan;15(1):334. http://www.ncbi.nlm.nih.gov/pubmed/23250815 Reiff M, Bernhardt BA, Mulchandani S. Genomic variation: what does it mean? LDI Issue Brief. 2013 FebMar;18(4):1-4. http://ldi.upenn.edu/policy/issue-briefs/2013/03/19/genomic-variation-what-does-itmean#disqus_comments Reiff M, Ross K, Mulchandani S, Propert KJ, Pyeritz RE, Spinner NB, Bernhardt BA. Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet. 2013 Jan;83(1):23-30. http://www.ncbi.nlm.nih.gov/pubmed/22989118

CASE EXAMPLES
Riggs E, Wain K, et al. Chromosomal microarray impacts clinical management. Clin Genet. 2013. http://www.ncbi.nlm.nih.gov/pubmed/23347240 Wain KE, Riggs E, et al. The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing. J Genet Couns. 2012 Oct;21(5):631-7. http://www.ncbi.nlm.nih.gov/pubmed/22610653

GENETIC COUNSELING ISSUES

Reiff M, Bernhardt BA, et al. "What does it mean?": uncertainties in understanding results of chromosomal microarray testing. Genet Med. 2012 Feb;14(2):250-8. PMID: 22241091 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445036/

CONDITION-SPECIFIC RESOURCES
Gene Reviews: expert-authored, peer-reviewed disease descriptions focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1116/ Genetic Education Materials for School Success (GEMSS): The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life. This resource includes information about medical/dietary needs, education supports, behavior and sensory supports, physical activity, school absences, and emergency planning for certain genetic conditions. http://gemssforschools.org/

INSURANCE
Insurance Coverage Toolkit for CMA: ISCA resource that includes tips on writing letters of medical necessity. Requires free registration. https://www.iscaconsortium.org/index.php/insurance-coveragetoolkit-for-cma

Published August 2013 NCHPEG All rights reserved