To the Editor: We understand the concern raised by Dr Saul1 that a fragile X analysis is not included along with a microarray in the testing algorithm for the categories of “multiple nonspecific concerns,” “autism and intellectual disability,” and “no gene panel available” (Figure 1) of our recent publication.2 The algorithm refers to clinical problems in addition to intellectual disability and autism. Fragile X testing is discussed twice in the text as first-tier molecular testing for autism and intellectual disability. Furthermore, in Figure 1, suspicion of a triplet-repeat disorder (such as fragile X) should prompt a triplet-repeat analysis. Our article was intended to inform clinicians on how to select from among the often confusing variety of available molecular testing options. The algorithm is not presented as a formal guideline. Other papers, including a guideline from the American College of Medical Genetics and Genomics, are more comprehensive and appropriate for specific clinic problems such as intellectual disability and autism.3,4
Disclosure
Y.X., A.A., and M.R.H. work for a nonprofit diagnostic laboratory. W.R.W. declares no conflict of interest.
References
Saul RA. Molecular genetic testing. Genet Med 2015;17:761 .
Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med 2015;17:444–451.
Moeschler JB, Shevell M ; Committee on Genetics of the American Academy of Pediatrics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics 2014;134:e903–e918.
Schaefer GB, Mendelsohn NJ ; Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 2013;15:399–407.
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Xue, Y., Ankala, A., Wilcox, W. et al. Response to Saul. Genet Med 17, 761 (2015). https://doi.org/10.1038/gim.2015.114
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DOI: https://doi.org/10.1038/gim.2015.114