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Clinical Genetic Testing Options

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Endocrine Conditions in Pediatrics

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Abstract

Genetic testing is becoming increasingly commonplace in the clinical setting, in large part due to significant advances in testing technologies combined with reductions in cost. An increase in the number of available testing options warrants an understanding of the basic strengths and limitations of those presently offered. In pediatric endocrinology practice, the use of molecular, cytogenic, and sequencing platforms are characterized by unique applications and limitations. This chapter aims to review the scope and basic technical methodologies presently available and describe relevant clinical use.

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References

  1. Wallace SE, Bean LJ. Educational materials; Genetic Testing: Current Approaches. GeneReviews. 2018. https://www.ncbi.nlm.nih.gov/books/NBK279899/. Accessed 11 November 2019.

  2. Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215(4):B2:B9. https://doi.org/10.1016/j.ajog.2016.07.016.

    Article  CAS  Google Scholar 

  3. Neill NJ, Ballif BC, Lamb AN, Parikh S, Ravnan JB, Schultz RA, et al. Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Res. 2011;21(4):535–44. https://doi.org/10.1101/gr.114579.110.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Kang SHL, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, et al. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet. 2010;152A(5):1111–26. https://doi.org/10.1002/ajmg.a.33278.

    Article  PubMed  Google Scholar 

  5. Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med. 2011;13(7):676–9. https://doi.org/10.1097/GIM.0b013e31822272ac.

    Article  PubMed  Google Scholar 

  6. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64. https://doi.org/10.1016/j.ajhg.2010.04.006.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, et al. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases. Eur J Hum Genet. 2014;22:969–78. https://doi.org/10.1038/ejhg.2013.285.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009;10:451–81. https://doi.org/10.1146/annurev.genom.9.081307.164217.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Kumar KR, Cowley MJ, Davis RL. Next-generation sequencing and emerging technologies. Semin Thromb Hemost. 2019;45(7):661–73. https://doi.org/10.1055/s-0039-1688446.

    Article  CAS  PubMed  Google Scholar 

  10. Vannucci L, Marini F, Giusti F, Ciuffi S, Tonelli F, Brandi ML. MEN1 in children and adolescents: data from patients of a regional referral center for hereditary endocrine tumors. Endocrine. 2018;59(2):438–48. https://doi.org/10.1007/s12020-017-1322-5.

    Article  CAS  PubMed  Google Scholar 

  11. Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, et al. ISPAD clinical practice consensus guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2018;27:46–63. https://doi.org/10.1111/pedi.12772.

    Article  Google Scholar 

  12. Biesecker LG, Biesecker BB. An approach to pediatric exome and genome sequencing. Curr Opin Pediatr. 2014;28(6):700–4. https://doi.org/10.1097/MOP.0000000000000418.

    Article  Google Scholar 

  13. Beygo J, Buiting K, Ramsden SC, Ellis R, Clayton-Smith J, Kanber D. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes. Eur J Hum Genet. 2019;11:70. https://doi.org/10.1186/1471-2350-11-70.

    Article  CAS  Google Scholar 

  14. Rajaratnam A, Shergill J, Salcedo-Arellano M, Saldarriaga W, Duan X, Hagerman R. Fragile X syndrome and fragile X-associated disorders. F1000Res. 2017;6:2112. https://doi.org/10.12688/f1000research.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Sofocleous C, Kolialexi A, Mavrou A. Molecular diagnosis of fragile X syndrome. Expert Rev Mol Diagn. 2009;9(1):23–30. https://doi.org/10.1586/14737159.9.1.23.

    Article  CAS  PubMed  Google Scholar 

  16. Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 2015;97(1):6–21. https://doi.org/10.1016/j.ajhg.2015.05.022.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgments

Pictures kindly shared by:

  • Peining Li, PhD, FACMG.

  • Director of the Cytogenetics Laboratory,

  • Department of Genetics, Yale School of Medicine

  • 333 Cedar Street, New Haven, CT.

  • (Tel: 203-785-6317).

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Authors and Affiliations

  1. Department of Pediatrics, Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

    Danielle Renzi & Barbara Pober

Authors
  1. Danielle Renzi
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  2. Barbara Pober
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Corresponding author

Correspondence to Barbara Pober .

Editor information

Editors and Affiliations

  1. Division of Pediatric Endocrinology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA

    Takara Stanley

  2. Division of Pediatric Endocrinology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA

    Madhusmita Misra

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Renzi, D., Pober, B. (2021). Clinical Genetic Testing Options. In: Stanley, T., Misra, M. (eds) Endocrine Conditions in Pediatrics. Springer, Cham. https://doi.org/10.1007/978-3-030-52215-5_35

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  • DOI: https://doi.org/10.1007/978-3-030-52215-5_35

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-52214-8

  • Online ISBN: 978-3-030-52215-5

  • eBook Packages: MedicineMedicine (R0)

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