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.
MT-RNR1 POCT
Applicable to all labs undertaking point-of-care molecular testing of MT-RNR1 for avoidance of aminoglyocside induced hearling loss in neonates.
Multiple Endocrine Neoplasia Type 2 (MEN2)
Applicable for all labs undertaking molecular genetics testing for this disorder.
DNA SEQUENCING – NGS (Somatic SNVs and indels + matched germline sample)
Applicable to any lab using requiring a matched normal control germline sample as part of their somatic NGS testing process. Pilot EQA.
NIPT for common aneuploidies (including sex chromosomes)
Applicable for all labs undertaking NIPT for common aneuploidies (including sex chromosomes).
