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Updated: Sep 29, 2025

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Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders.
Summary
The American College of Medical Genetics and Genomics (ACMG) retired this document in May 2019. An addendum provides further context and updates to the guidelines.
Area of Science:
- Medical Genetics
- Genomic Guidelines
Background:
- The American College of Medical Genetics and Genomics (ACMG) previously issued guidelines.
- These guidelines required updates due to advancements in the field.
Purpose of the Study:
- To announce the retirement of a specific document.
- To provide an addendum with updated information.
Main Methods:
- Document review and board decision.
- Development of an addendum.
Main Results:
- The document was officially retired on May 20, 2019.
- An addendum was issued concurrently.
Conclusions:
- The retired document is no longer the current standard.
- Users should refer to the addendum for the latest information.
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