A panoramic view of the accuracy of molecular genetic testing

Weck, Karen E.; Schrijver, Iris

doi:10.1038/gim.2016.116

Genetics in Medicine

2016

DOI: 10.1038/gim.2016.116

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A panoramic view of the accuracy of molecular genetic testing

Karen E. Weck

Iris Schrijver

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“…Published data are available demonstrating that LDTs developed, validated, and performed within an experienced laboratory supervised by appropriately credentialed individuals are generally accurate. 3 Finally, as risk also exists in the pre-and postanalytical phases, we recommend pre-and post-test educational content/counseling developed and/or delivered by an appropriately trained professional, particularly for higher complexity tests.…”

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confidence: 99%

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

South¹,

McClure

Astbury

et al. 2020

Genetics in Medicine

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This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

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mentioning

confidence: 99%

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

South¹,

McClure

Astbury

et al. 2020

Genetics in Medicine

View full text Add to dashboard Cite

show abstract

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A panoramic view of the accuracy of molecular genetic testing

Cited by 1 publication

References 9 publications

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

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