Pharmacogenetics (DPYD / UGT1A1 only)
Applicable to all labs undertaking molecular testing of DPYD and/or UGT1A1 pharmacogenetic markers for drug response and efficacy.
Pharmacogenetics (panel testing)
Applicable to all labs undertaking panel based molecular testing of pharmacogenetic markers for drug response and efficacy.
Phenylketonuria (PKU)
Applicable to all labs undertaking molecular genetic testing in this disorder.
Multiple Endocrine Neoplasia Type 2 (MEN2)
Applicable for all labs undertaking molecular genetics testing for this disorder.
Mitochondrial DNA disorders
Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders
DNA SEQUENCING – NGS (Germline SNVs and indels)
Applicable to any labs using NGS as part of their germline testing process.
