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Imprinting disorders are complex and ideally require diagnostic testing in a specialized laboratory. The testing laboratory must have a thorough understanding of the disease biology and testing platform limitations. As… Click to show full abstract
Imprinting disorders are complex and ideally require diagnostic testing in a specialized laboratory. The testing laboratory must have a thorough understanding of the disease biology and testing platform limitations. As the biological basis for these rare disorders is revealed, testing approaches must encompass both genomic and epigenomic investigations to ensure that affected families are fully informed of transmission and recurrence risks.
Keywords:
imprinting disorders;
epigenetic testing;
diagnostic setting;
testing imprinting;
disorders diagnostic;
germline epigenetic
Journal Title: Clinical Epigenetics
Year Published: 2019
Link to full text (if available)
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Journal Title: Clinical Epigenetics
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!