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Genomic Medicine pp 3–23Cite as

Pre-analytics, Current Testing Technologies, and Limitations of Testing

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Abstract

Molecular evaluation of genetic abnormalities requires basic knowledge of genetics and molecular pathology. It also requires basic knowledge of pre-analytic variables that affect these tests and the limitations for each test used to detect these abnormalities. Many limitations of testing start before the tests are even performed. In this chapter, we will review pre-analytical variables affecting the molecular evaluation, the landscape of current testing technologies, and the limitations of testing of some of the most commonly used tests. The aim is to cover the most commonly used tests in clinical practice, and tests not commonly used or mainly used for research are not covered in this chapter.

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Abbreviations

aCGH:

Array comparative genomic hybridization

CNV:

Copy number variant

FISH:

Fluorescence in situ hybridization

indel:

Insertions and deletions

MLPA:

Multiplex ligation-dependent probe amplification

NGS:

Next-generation sequencing

RT-PCR:

Reverse transcription polymerase chain reaction

SNV:

Single-nucleotide variant

SV:

Structural variants

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Authors and Affiliations

  1. Joint Pathology Center, Molecular Diagnostics Laboratory, Silver Spring, MD, USA

    Alejandro Luiña Contreras

  2. St. Luke’s Medical Center, Quezon City and Global City, Philippines

    Jose Jasper L. Andal

  3. Philippine Orthopedic Center, Quezon City, Philippines

    Jose Jasper L. Andal

  4. St. Luke’s Medical Center, Quezon City, Philippines

    Raymundo M. Lo

  5. Philippine Children’s Medical Center, Quezon City, Philippines

    Raymundo M. Lo

  6. Department of Pathology, St. Luke’s Medical Center, Quezon City and Global City, Philippines

    Daphne C. Ang

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  1. Alejandro Luiña Contreras
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  2. Jose Jasper L. Andal
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  3. Raymundo M. Lo
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  4. Daphne C. Ang
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Correspondence to Alejandro Luiña Contreras .

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Editors and Affiliations

  1. Dartmouth–Hitchcock Medical Center, Lebanon, NH, USA

    Laura J. Tafe

  2. Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Maria E. Arcila

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Contreras, A.L., Andal, J.J.L., Lo, R.M., Ang, D.C. (2020). Pre-analytics, Current Testing Technologies, and Limitations of Testing. In: Tafe, L., Arcila, M. (eds) Genomic Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-22922-1_1

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