Category
Standard
Type
Standard
Version
3
Access
Open
Status
Active
Created
2022
This is the current version.
This standard sets out the expected level of practice required by laboratories for medical testing of heritable and non-heritable human genetic variation. The third edition consolidates the Requirements for medical testing of human nucleic acids (second edition) and Requirements for cytogenetic testing (third edition).
Main sections:
- Pre-analytical - ethical responsibilities, specimen collection, laboratory facilities and the risk of contamination, specimen preparation and storage
- Analytical - testing methodologies, interpretation
- Post-analytical - reporting standards, outsourced testing
- Classification of human genetic testing
- Report format
- Assessment of banding quality of cytogenetic slide preparations
- Recommended minimum banding quality
Main sections:
- Pre-analytical - ethical responsibilities, specimen collection, laboratory facilities and the risk of contamination, specimen preparation and storage
- Analytical - testing methodologies, interpretation
- Post-analytical - reporting standards, outsourced testing
- Classification of human genetic testing
- Report format
- Assessment of banding quality of cytogenetic slide preparations
- Recommended minimum banding quality
Access Requirements for medical testing for human genetic variation
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